1 chr1 218615451 218615451 1 + A C rs991967 218615451 + 218615431 218615471 41 AAGGTCCAAAAACTAAAAAGACTGTTAATAAAAGAAACTTT AAGGTCCAAAAACTAAAAAGCCTGTTAATAAAAGAAACTTT Direct Loss 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 Functional Loss -1 21 MIR548F3 ENSG00000092969 UTR3 Human protein_coding chr1:218615451 chr1:218615451 . . 0 hm6A_associated_SNPs_30 1 25282103 Height 2e-26 GWAS_Catalog TagSNP rs991967 GCST002647 Defining the role of common variation in the genomic and biological architecture of adult human height.
2 chr5 35877914 35877914 1 + A G rs10491434 35877914 + 35877894 35877934 41 AGACTGACTTCTAATGACTAACTCAAAGTCAAGGCAACTGA AGACTGACTTCTAATGACTAGCTCAAAGTCAAGGCAACTGA Direct Loss 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 Functional Loss -1 21 IL7R ENSG00000168685 UTR3 Human protein_coding chr5:35877914 chr5:35877914 . . 0 hm6A_associated_SNPs_102 1 17554300 Multiple complex diseases 0.000736236 Johnson and O'Donnell TagSNP rs10491434 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
3 chr9 96327691 96327691 1 + A C rs11975 96327691 + 96327671 96327711 41 CGTCCTTTCTTCCATTCTTAACAGTATGTGCCCATTTGCAA CGTCCTTTCTTCCATTCTTACCAGTATGTGCCCATTTGCAA Direct Loss 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0 Functional Loss -1 21 FAM120A ENSG00000048828 UTR3 Human protein_coding chr9:96327691 chr9:96327691 . . 0 hm6A_associated_SNPs_169 0 29500382 Neurociticism 4e-11 GWAS_Catalog TagSNP rs11975 GCST006940 Item-level analyses reveal genetic heterogeneity in neuroticism.
4 chr1 28598287 28598287 1 + C T rs74896528 28598291 + 28598271 28598311 41 GGTGATGGGCCTGCACCCTGACTACTTTACCAGCTTCTGGC GGTGATGGGCCTGCACTCTGACTACTTTACCAGCTTCTGGC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0.0753010809421539 Functional Loss -0.924698919057846 17 SESN2 ENSG00000130766 CDS Human protein_coding chr1:28598291 chr1:28598287 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_2162 0 30993211 Serum uric acid levels 8e-09 GWAS_Catalog TagSNP rs74896528 GCST007725 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.
5 chr1 31837632 31837632 1 + C T rs17495262 31837626 + 31837606 31837646 41 AGAAAACAGTCTGCAGTGTGACTTAACTTGTGTATTGCATT AGAAAACAGTCTGCAGTGTGACTTAATTTGTGTATTGCATT < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.102555841207504 Functional Loss -0.897444158792496 27 ZCCHC17 ENSG00000121766 UTR3 Human protein_coding chr1:31837626 chr1:31837632 . . 0 hm6A_associated_SNPs_2186 0 17554300 Multiple complex diseases 0.000263402 Johnson and O'Donnell TagSNP rs17495262 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
6 chr1 40219065 40219065 1 + C T rs1046988 40219083 + 40219063 40219103 41 CCCTGCATATCCAGGAAGGAACTGCCAGCCTCAGAGGAGGC CCTTGCATATCCAGGAAGGAACTGCCAGCCTCAGAGGAGGC < 41bp 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0.494216233491898 Functional Loss -0.505783766508102 3 PPIE ENSG00000084072 UTR3 Human protein_coding chr1:40219083 chr1:40219065 . . 0 hm6A_associated_SNPs_2225 0 30072576 Blood protein levels 4e-25 GWAS_Catalog TagSNP rs1046988 GCST006585 Co-regulatory networks of human serum proteins link genetics to disease.
7 chr1 114519351 114519351 1 + T G rs10732635 114519359 + 114519339 114519379 41 GGTTAGCCCTGTTGGCCCTGACAGGAAGGGAGGAAGCCTGG GGTTAGCCCTGTGGGCCCTGACAGGAAGGGAGGAAGCCTGG < 41bp 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.0084717869758606 Functional Loss -0.991528213024139 13 HIPK1 ENSG00000163349 UTR3 Human protein_coding chr1:114519359 chr1:114519351 . . 0 hm6A_associated_SNPs_2368 0 30598549 Heel bone mineral density 2e-09 GWAS_Catalog TagSNP rs10732635 GCST006979 An atlas of genetic influences on osteoporosis in humans and mice.
8 chr1 161182208 161182208 1 + C G rs11576415 161182200 + 161182180 161182220 41 AATTATCGCACAGTGTCTAAACAAGATGCCTCCTGGGGAGA AATTATCGCACAGTGTCTAAACAAGATGGCTCCTGGGGAGA < 41bp 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0.0842074453830719 Functional Loss -0.915792554616928 29 NDUFS2 ENSG00000158864 CDS Human protein_coding chr1:161182200 chr1:161182208 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_2440 2 27863252 Granulocyte percentage of myeloid white cells 2e-10 GWAS_Catalog TagSNP rs11576415 GCST004608 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
9 chr2 27844601 27844601 1 + T A rs1881396 27844617 + 27844597 27844637 41 CTCCTCTTGCCCTGTACAAAACTAAGAAACCTCTTTGGTTG CTCCACTTGCCCTGTACAAAACTAAGAAACCTCTTTGGTTG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.0365800559520721 Functional Loss -0.963419944047928 5 ZNF512 ENSG00000259080 ncRNA_intronic Human processed_transcript chr2:27844617 chr2:27844601 . . 0 hm6A_associated_SNPs_2702 0 29385134 Nonalcoholic fatty liver disease 1e-06 GWAS_Catalog TagSNP rs1881396 GCST005308 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
10 chr2 179203797 179203797 1 + G A rs1434087 179203814 + 179203794 179203834 41 GTCGGCACCTAACTTTACTGACATGCAGGTAAACATATTCC GTCAGCACCTAACTTTACTGACATGCAGGTAAACATATTCC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 1 0.463687419891357 Functional Loss -0.536312580108643 4 OSBPL6 ENSG00000079156 CDS Human protein_coding chr2:179203814 chr2:179203797 synonymous SNV . 0 hm6A_associated_SNPs_2919 0 17554300 Multiple complex diseases 0.000959719 Johnson and O'Donnell TagSNP rs1434087 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
11 chr3 53892830 53892830 1 + T C rs2232346 53892818 + 53892798 53892838 41 CAGTTGTGCTCTGCCCACAAACAGGCGTCCCTTTCCCTCTG CAGTTGTGCTCTGCCCACAAACAGGCGTCCCTCTCCCTCTG < 41bp 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.353685796260834 Functional Loss -0.646314203739166 33 IL17RB ENSG00000056736 CDS Human protein_coding chr3:53892818 chr3:53892830 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_3210 0 29875488 Blood protein levels 4e-77 GWAS_Catalog TagSNP rs2232346 GCST005806 Genomic atlas of the human plasma proteome.
12 chr3 148727133 148727133 1 + G A rs4938 148727124 + 148727104 148727144 41 GCAACAACAGATATCAGAAAACACCTGCCGTTTATTTATAA GCAACAACAGATATCAGAAAACACCTGCCATTTATTTATAA < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0.00743904709815979 Functional Loss -0.99256095290184 30 GYG1 ENSG00000163754 CDS Human protein_coding chr3:148727124 chr3:148727133 synonymous SNV . 0 hm6A_associated_SNPs_3330 1 17463246 Multiple continuous traits in DGI samples 0.0003872 Johnson and O'Donnell TagSNP rs4938 . Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
13 chr3 172115902 172115902 1 + G A rs12897 172115886 + 172115866 172115906 41 CTGTATTTCTTATAATTTTAACACTATGAGCTGCCTGTATA CTGTATTTCTTATAATTTTAACACTATGAGCTGCCTATATA < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.0718647539615631 Functional Loss -0.928135246038437 37 FNDC3B ENSG00000075420 UTR3 Human protein_coding chr3:172115886 chr3:172115902 . . 0 hm6A_associated_SNPs_3361 0 29212778 Coronary artery disease 2e-10 GWAS_Catalog TagSNP rs12897 GCST005196 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
14 chr5 75960968 75960968 1 + G C rs34968964 75960962 + 75960942 75960982 41 TGAGTAAGGAGAGGAGAAAAACACTAGAAACATATCAGCAG TGAGTAAGGAGAGGAGAAAAACACTACAAACATATCAGCAG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0.0143997669219971 Functional Loss -0.985600233078003 27 IQGAP2 ENSG00000145703 CDS Human protein_coding chr5:75960962 chr5:75960968 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_3710 0 27863252 Mean platelet volume 1e-34 GWAS_Catalog TagSNP rs34968964 GCST004599 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
15 chr6 3114457 3114457 1 + C T rs17548629 3114470 + 3114450 3114490 41 CTGAGTGCCCTGGAGAGGGAACAGGAAATGCTGATCTCTAC CTGAGTGTCCTGGAGAGGGAACAGGAAATGCTGATCTCTAC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.177950114011765 Functional Loss -0.822049885988235 8 RIPK1 ENSG00000137275 UTR3 Human protein_coding chr6:3114470 chr6:3114457 . . 0 hm6A_associated_SNPs_3897 0 28000841 Idiopathic osteonecrosis of the femoral head 5e-06 GWAS_Catalog TagSNP rs17548629 GCST003918 Genome-wide association scans for idiopathic osteonecrosis of the femoral head in a Korean population.
16 chr6 26104280 26104280 1 + T C rs2229768 26104271 + 26104251 26104291 41 AACATCCAGGGCATTACAAAACCGGCTATTCGCCGTTTGGC AACATCCAGGGCATTACAAAACCGGCTATCCGCCGTTTGGC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0.414342522621155 Functional Loss -0.585657477378845 30 HIST1H4C ENSG00000197061 CDS Human protein_coding chr6:26104271 chr6:26104280 synonymous SNV . 0 hm6A_associated_SNPs_3955 0 30598549 Heel bone mineral density 1e-10 GWAS_Catalog TagSNP rs2229768 GCST006979 An atlas of genetic influences on osteoporosis in humans and mice.
17 chr6 29913298 29913298 1 + A T rs1061235 29913290 + 29913270 29913310 41 TTCCTGCCCTTCCCTTTGTGACTTGAAGAACCCTGACTTTG TTCCTGCCCTTCCCTTTGTGACTTGAAGTACCCTGACTTTG < 41bp 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0.0234891176223755 Functional Loss -0.976510882377625 29 HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913290 chr6:29913298 . . 0 hm6A_associated_SNPs_3987 1 21428769 Adverse response to carbamazepine 1e-07 GWAS_Catalog TagSNP rs1061235 GCST001014 HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
18 chr6 29913298 29913298 1 + A T rs1061235 29913299 + 29913279 29913319 41 TTCCCTTTGTGACTTGAAGAACCCTGACTTTGTTTCTGCAA TTCCCTTTGTGACTTGAAGTACCCTGACTTTGTTTCTGCAA Direct Loss 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0.0217296183109283 Functional Loss -1 20 HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913299 chr6:29913298 . . 0 hm6A_associated_SNPs_3988 1 21428769 Adverse response to carbamazepine 1e-07 GWAS_Catalog TagSNP rs1061235 GCST001014 HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
19 chr6 29913298 29913298 1 + A T rs1061235 29913305 + 29913285 29913325 41 TTGTGACTTGAAGAACCCTGACTTTGTTTCTGCAAAGGCAC TTGTGACTTGAAGTACCCTGACTTTGTTTCTGCAAAGGCAC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 0.0479721128940582 Functional Loss -0.952027887105942 14 HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913305 chr6:29913298 . . 0 hm6A_associated_SNPs_3989 1 21428769 Adverse response to carbamazepine 1e-07 GWAS_Catalog TagSNP rs1061235 GCST001014 HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
20 chr6 30692539 30692539 1 + C T rs1061397 30692521 + 30692501 30692541 41 GAACCAACCAGGTGCTGAAAACACATGTAGATAATGGCCAT GAACCAACCAGGTGCTGAAAACACATGTAGATAATGGCTAT < 41bp 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0.0090671181678772 Functional Loss -0.990932881832123 39 TUBB ENSG00000196230 UTR3 Human protein_coding chr6:30692521 chr6:30692539 . . 0 hm6A_associated_SNPs_4004 0 17554300 Multiple complex diseases 0.000988676 Johnson and O'Donnell TagSNP rs1061397 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
21 chr6 30692965 30692965 1 + G A rs8233 30692948 + 30692928 30692968 41 TTACTCCCAAAAAAGAATGAACACCCCTGACTCTGGAGTGG TTACTCCCAAAAAAGAATGAACACCCCTGACTCTGGAATGG < 41bp 0 0 0 0 0 0 0 1 0 0 0 0 0 0 1 0 0 0 0 0 1 1 0 0 0 0 0 0 0 1 0.0267578065395355 Functional Loss -0.973242193460464 38 TUBB ENSG00000196230 UTR3 Human protein_coding chr6:30692948 chr6:30692965 . . 0 hm6A_associated_SNPs_4005 0 17554300 Multiple complex diseases 4.22e-42 Johnson and O'Donnell TagSNP rs8233 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
22 chr6 30692965 30692965 1 + G A rs8233 30692957 + 30692937 30692977 41 AAAAAGAATGAACACCCCTGACTCTGGAGTGGTGTATACTG AAAAAGAATGAACACCCCTGACTCTGGAATGGTGTATACTG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0.0524964928627014 Functional Loss -0.947503507137299 29 TUBB ENSG00000196230 UTR3 Human protein_coding chr6:30692957 chr6:30692965 . . 0 hm6A_associated_SNPs_4006 0 17554300 Multiple complex diseases 4.22e-42 Johnson and O'Donnell TagSNP rs8233 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
23 chr6 31382911 31382911 1 + A G rs1882 31382917 + 31382897 31382937 41 GCTCCACTGAGGGCACCTAGACTCTACAGCCAGGCGGCTGG GCTCCACTGAGGGCGCCTAGACTCTACAGCCAGGCGGCTGG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.194186896085739 Functional Loss -0.805813103914261 15 MICA ENSG00000206337 ncRNA_intronic Human sense_overlapping chr6:31382917 chr6:31382911 . . 0 hm6A_associated_SNPs_4011 0 27863252 Platelet distribution width 1e-19 GWAS_Catalog TagSNP rs1882 GCST004616 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
24 chr7 116147908 116147908 1 + C G rs4727833 116147893 + 116147873 116147913 41 TACCATCAGAACCTCAATTGACATTCCTTTGAATACGCTAA TACCATCAGAACCTCAATTGACATTCCTTTGAATAGGCTAA < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0.125986874103546 Functional Loss -0.874013125896454 36 CAV2 ENSG00000105971 UTR3 Human protein_coding chr7:116147893 chr7:116147908 . . 0 hm6A_associated_SNPs_4359 0 29531354 Ischemic stroke (cardioembolic) 2e-07 GWAS_Catalog TagSNP rs4727833 GCST005842 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
25 chr7 116200092 116200092 1 + T C rs9920 116200098 + 116200078 116200118 41 CCAAAATTAGAATATCCATGACCTAGTTTTCCATGCGTGTT CCAAAATTAGAATACCCATGACCTAGTTTTCCATGCGTGTT < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 1 0.00227832794189453 Functional Loss -0.997721672058105 15 CAV1 ENSG00000105974 UTR3 Human protein_coding chr7:116200098 chr7:116200092 . . 0 hm6A_associated_SNPs_4362 0 27863252 Reticulocyte fraction of red cells 1e-24 GWAS_Catalog TagSNP rs9920 GCST004619 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
26 chr7 128410012 128410012 1 + G A rs1043595 128409994 + 128409974 128410014 41 TAGATAGAAACAGCTGGAAAACTAAAGGAAAAATACAAGTG TAGATAGAAACAGCTGGAAAACTAAAGGAAAAATACAAATG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.0164209604263306 Functional Loss -0.983579039573669 39 CALU ENSG00000128595 UTR3 Human protein_coding chr7:128409994 chr7:128410012 . . 0 hm6A_associated_SNPs_4379 0 30038396 Cognitive performance 4e-11 GWAS_Catalog TagSNP rs1043595 GCST006572 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
27 chr9 82340765 82340765 1 + G A rs11545434 82340761 + 82340741 82340781 41 GGACTTTTTTTCTTTTTTTGACTCGTTGACAAGTGTCTTTG GGACTTTTTTTCTTTTTTTGACTCATTGACAAGTGTCTTTG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.15842992067337 Functional Loss -0.84157007932663 25 TLE4 ENSG00000106829 UTR3 Human protein_coding chr9:82340761 chr9:82340765 . . 0 hm6A_associated_SNPs_4697 0 29346644 Disease progression in age-related macular degeneration 8e-06 GWAS_Catalog TagSNP rs11545434 GCST005359 Genome-wide Analysis of Disease Progression in Age-related Macular Degeneration.
28 chr9 124521260 124521260 1 + G A rs3747851 124521247 + 124521227 124521267 41 GCGGGATAAGTGGATGGAGAACCTCCGGCGAGCGGTGCATC GCGGGATAAGTGGATGGAGAACCTCCGGCGAGCAGTGCATC < 41bp 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.0379591584205627 Functional Loss -0.962040841579437 34 DAB2IP ENSG00000136848 CDS Human protein_coding chr9:124521247 chr9:124521260 synonymous SNV . 0 hm6A_associated_SNPs_4749 0 23648065 Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) 6e-07 GWAS_Catalog TagSNP rs3747851 GCST001995 Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
29 chr10 12209752 12209752 1 + T C rs6686 12209746 - 12209726 12209766 41 TCCTACGCTCTAGCACTGAAACATGCAAATGCAAAGCCATT TCCTACGCTCTAGCGCTGAAACATGCAAATGCAAAGCCATT < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 1 0.00447329878807068 Functional Loss -0.995526701211929 15 NUDT5 ENSG00000065665;ENSG00000165609 CDS Human other chr10:12209746 chr10:12209752 synonymous SNV . 0 hm6A_associated_SNPs_4842 0 30595370 Height 2e-17 GWAS_Catalog TagSNP rs6686 GCST007841 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30 chr10 12209752 12209752 1 + T C rs6686 12209771 + 12209751 12209791 41 GTGCTAGAGCGTAGGAATAGACCCTGGCGTCCACTGTGAGA GCGCTAGAGCGTAGGAATAGACCCTGGCGTCCACTGTGAGA < 41bp 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.122868806123734 Functional Loss -0.877131193876266 2 NUDT5 ENSG00000065665;ENSG00000165609 CDS Human other chr10:12209771 chr10:12209752 synonymous SNV . 0 hm6A_associated_SNPs_4843 0 30595370 Height 2e-17 GWAS_Catalog TagSNP rs6686 GCST007841 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
31 chr10 112045171 112045171 1 + C T rs14401 112045182 + 112045162 112045202 41 AAAACTATTCGAATGAAAAGACAAGAAAATCAGGTATTAAT AAAACTATTTGAATGAAAAGACAAGAAAATCAGGTATTAAT < 41bp 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.173451572656631 Functional Loss -0.826548427343369 10 MXI1 ENSG00000119950 UTR3 Human protein_coding chr10:112045182 chr10:112045171 . . 0 hm6A_associated_SNPs_5029 0 18178869 Minor histocompatibility antigenicity 0.05 Johnson and O'Donnell TagSNP rs14401 . Identification of human minor histocompatibility antigens based on genetic association with highly parallel genotyping of pooled DNA.
32 chr11 64009879 64009879 1 + G A rs4672 64009887 + 64009867 64009907 41 TGAGCTGGTTCCGGGTCCTGACAGTACTGTCCATCTGCCTG TGAGCTGGTTCCAGGTCCTGACAGTACTGTCCATCTGCCTG < 41bp 0 1 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.469578742980957 Functional Loss -0.530421257019043 13 FKBP2 ENSG00000173486 CDS Human protein_coding chr11:64009887 chr11:64009879 nonsynonymous SNV 0.971 0 hm6A_associated_SNPs_5199 0 30038396 Cognitive performance (MTAG) 6e-09 GWAS_Catalog TagSNP rs4672 GCST006570 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
33 chr12 112460749 112460749 1 + A G rs7114 112460745 + 112460725 112460765 41 GTGTACTGCCCAGGTCTTTGACAGATGTAATTCTCATTCAA GTGTACTGCCCAGGTCTTTGACAGGTGTAATTCTCATTCAA < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 1 0.359667122364044 Functional Loss -0.640332877635956 25 ERP29 ENSG00000089248 UTR3 Human protein_coding chr12:112460745 chr12:112460749 . . 0 hm6A_associated_SNPs_5636 0 17554300 Multiple complex diseases 0.000145673 Johnson and O'Donnell TagSNP rs7114 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
34 chr12 123742061 123742061 1 + G A rs1969355 123742064 + 123742044 123742084 41 CACCTGGGTGACAGAGCGAGACCCCATCTCAAAAAAAAAAT CACCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAT < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.0415386855602264 Functional Loss -0.958461314439774 18 C12orf65 ENSG00000235423 ncRNA_intronic Human antisense chr12:123742064 chr12:123742061 . . 0 hm6A_associated_SNPs_5685 1 30038396 Cognitive performance (MTAG) 4e-17 GWAS_Catalog TagSNP rs1969355 GCST006570 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
35 chr12 124144395 124144395 1 + A C rs1051793 124144406 + 124144386 124144426 41 CCCACCCCCAGTTCATGTTGACTACAGGGCTGCTTGCTTCT CCCACCCCCCGTTCATGTTGACTACAGGGCTGCTTGCTTCT < 41bp 0 0 0 0 0 0 0 0 1 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.293222188949585 Functional Loss -0.706777811050415 10 GTF2H3 ENSG00000111358 CDS Human protein_coding chr12:124144406 chr12:124144395 nonsynonymous SNV . 0 hm6A_associated_SNPs_5694 0 16252231 Parkinson's disease 0.03189 Johnson and O'Donnell TagSNP rs1051793 . High-resolution whole-genome association study of Parkinson disease.
36 chr14 23780222 23780222 1 + A G rs10149339 23780220 + 23780200 23780240 41 ACCCTACCCTCTACCACAGGACACATATCCCTGTTAGCATT ACCCTACCCTCTACCACAGGACGCATATCCCTGTTAGCATT Direct Loss 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0.232434809207916 Functional Loss -1 23 BCL2L2 ENSG00000129473 CDS Human protein_coding chr14:23780220 chr14:23780222 unknown . 0 hm6A_associated_SNPs_5815 0 17434096 Ischemic stroke 3.01e-05 Johnson and O'Donnell TagSNP rs10149339 . A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.
37 chr15 42859235 42859235 1 + T G rs10851411 42859243 + 42859223 42859263 41 GAAGCTAAAAAATAGCCATGACAATTTATTAATATAAGTGA GAAGCTAAAAAAGAGCCATGACAATTTATTAATATAAGTGA < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0.0286346673965454 Functional Loss -0.971365332603455 13 HAUS2 ENSG00000261822 ncRNA_exonic Human antisense chr15:42859243 chr15:42859235 . . 0 hm6A_associated_SNPs_6067 0 25524916 Glucose homeostasis traits 6e-06 GWAS_Catalog TagSNP rs10851411 GCST002726 Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.
38 chr15 42861362 42861362 1 + C T rs12439377 42861361 + 42861341 42861381 41 TAATAGAGAGTGATATACTAACAACTGCCTCAGGATATACT TAATAGAGAGTGATATACTAATAACTGCCTCAGGATATACT Direct Loss 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 1 0 0 0 0 1 0.00294029712677002 Functional Loss -1 22 HAUS2 ENSG00000261822 ncRNA_intronic Human antisense chr15:42861361 chr15:42861362 . . 0 hm6A_associated_SNPs_6069 0 17554300 Multiple complex diseases 0.000102984 Johnson and O'Donnell TagSNP rs12439377 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
39 chr16 69497203 69497203 1 + G A rs12149862 69497205 + 69497185 69497225 41 CCCTTCCCAAGTGGTGCCGGACAAAAAACTACATGGCCCTT CCCTTCCCAAGTGGTGCCAGACAAAAAACTACATGGCCCTT < 41bp 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 1 1 0 0 0 0 0 0 1 0.0803802907466888 Functional Loss -0.919619709253311 19 CYB5B ENSG00000103018 UTR3 Human protein_coding chr16:69497205 chr16:69497203 . . 0 hm6A_associated_SNPs_6394 0 25189868 Blood pressure (smoking interaction) 4e-09 GWAS_Catalog TagSNP rs12149862 GCST002587 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.
40 chr16 69497203 69497203 1 + G A rs12149862 69497212 + 69497192 69497232 41 CAAGTGGTGCCGGACAAAAAACTACATGGCCCTTTCGTGTC CAAGTGGTGCCAGACAAAAAACTACATGGCCCTTTCGTGTC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 1 0.109953492879868 Functional Loss -0.890046507120132 12 CYB5B ENSG00000103018 UTR3 Human protein_coding chr16:69497212 chr16:69497203 . . 0 hm6A_associated_SNPs_6395 0 25189868 Blood pressure (smoking interaction) 4e-09 GWAS_Catalog TagSNP rs12149862 GCST002587 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.
41 chr16 69730426 69730426 1 + A G rs1437134 69730431 + 69730411 69730451 41 GCTGCTTGTTGCAGTAACTAACCACCAATGTTAACATCTTC GCTGCTTGTTGCAGTGACTAACCACCAATGTTAACATCTTC < 41bp 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.350227117538452 Functional Loss -0.649772882461548 16 NFAT5 ENSG00000102908 UTR3 Human protein_coding chr16:69730431 chr16:69730426 . . 0 hm6A_associated_SNPs_6397 0 17554300 Multiple complex diseases 0.000335552 Johnson and O'Donnell TagSNP rs1437134 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
42 chr16 81064702 81064702 1 + G A rs1048194 81064684 + 81064664 81064704 41 TAAATAAAATAAAATAAATGACATCACTTTGGTTCAGAGCT TAAATAAAATAAAATAAATGACATCACTTTGGTTCAGAACT < 41bp 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0.0155814290046692 Functional Loss -0.984418570995331 39 CENPN ENSG00000261061 ncRNA_exonic Human sense_intronic chr16:81064684 chr16:81064702 . . 0 hm6A_associated_SNPs_6417 0 17554300 Multiple complex diseases 7.39e-12 Johnson and O'Donnell TagSNP rs1048194 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
43 chr17 46051911 46051911 1 + G A rs886444 46051918 + 46051898 46051938 41 CAGTCTGTGAGTGGGAAGAGACTGGAGTGTAGATGTTGCCC CAGTCTGTGAGTGAGAAGAGACTGGAGTGTAGATGTTGCCC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.0880082249641418 Functional Loss -0.911991775035858 14 CDK5RAP3 ENSG00000108465 intronic Human protein_coding chr17:46051918 chr17:46051911 . . 0 hm6A_associated_SNPs_6672 0 30595370 Lung function (FVC) 5e-16 GWAS_Catalog TagSNP rs886444 GCST007081 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
44 chr18 13069782 13069782 1 + C G rs6505780 13069802 + 13069782 13069822 41 CTCCTTAAACCTGGAGAAGAACATGAGGTTATTGTTTCATT GTCCTTAAACCTGGAGAAGAACATGAGGTTATTGTTTCATT < 41bp 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0.433800518512726 Functional Loss -0.566199481487274 1 CEP192 ENSG00000101639 CDS Human protein_coding chr18:13069802 chr18:13069782 nonsynonymous SNV 0.590 1 hm6A_associated_SNPs_6836 0 17998437 Alzheimer's disease 0.000443 Johnson and O'Donnell TagSNP rs6505780 . Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
45 chr19 6857245 6857245 1 + C T rs56100731 6857230 + 6857210 6857250 41 GGGTGGAGACTTTGGGATGGACTGGAGGAGGCCAGCGTCCA GGGTGGAGACTTTGGGATGGACTGGAGGAGGCCAGTGTCCA < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0.268580257892609 Functional Loss -0.731419742107391 36 VAV1 ENSG00000141968 UTR3 Human protein_coding chr19:6857230 chr19:6857245 . . 0 hm6A_associated_SNPs_6909 0 30072576 Blood protein levels 6e-14 GWAS_Catalog TagSNP rs56100731 GCST006585 Co-regulatory networks of human serum proteins link genetics to disease.
46 chr19 11227554 11227554 1 + C T rs1799898 11227572 + 11227552 11227592 41 CTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT CTTTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 1 0.138445138931274 Functional Loss -0.861554861068726 3 LDLR ENSG00000130164 CDS Human protein_coding chr19:11227572 chr19:11227554 synonymous SNV . 0 hm6A_associated_SNPs_6923 2 18159244 Early onset extreme obesity 0.0028 Johnson and O'Donnell TagSNP rs1799898 . Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.
47 chr19 11233941 11233941 1 + A G rs5927 11233921 + 11233901 11233941 41 TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGA TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 1 0.31839382648468 Functional Loss -0.68160617351532 41 LDLR ENSG00000130164 CDS Human protein_coding chr19:11233921 chr19:11233941 synonymous SNV . 0 hm6A_associated_SNPs_6924 2 28843169 Cortisol levels (saliva) 9e-06 GWAS_Catalog TagSNP rs5927 GCST004780 The low single nucleotide polymorphism heritability of plasma and saliva cortisol levels.
48 chr19 41263403 41263403 1 + A G rs2230694 41263399 + 41263379 41263419 41 GCAGGGTTTCCCTTTCTATGACAAACCTATGGTGAGCATTG GCAGGGTTTCCCTTTCTATGACAAGCCTATGGTGAGCATTG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.0579719543457031 Functional Loss -0.942028045654297 25 SNRPA ENSG00000077312 CDS Human protein_coding chr19:41263399 chr19:41263403 synonymous SNV . 0 hm6A_associated_SNPs_7015 0 28240269 Blood protein levels 1e-68 GWAS_Catalog TagSNP rs2230694 GCST004365 Connecting genetic risk to disease end points through the human blood plasma proteome.
49 chr19 58770883 58770883 1 + G A rs260461 58770878 - 58770858 58770898 41 ACCTTGATTTTGATCCAGTGACATTGATTTTGGACTTGTGG ACCTTGATTTTGATCTAGTGACATTGATTTTGGACTTGTGG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.0431041419506073 Functional Loss -0.956895858049393 16 ZNF544 ENSG00000268516 ncRNA_exonic Human antisense chr19:58770878 chr19:58770883 . . 0 hm6A_associated_SNPs_7103 0 18821565 Attention deficit hyperactivity disorder 8e-06 GWAS_Catalog TagSNP rs260461 GCST000281 Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
50 chr20 3630249 3630249 1 + T A rs432647 3630260 + 3630240 3630280 41 AAACGACAGTGCTGGAGGAGACTCAGGAAGCAGAGGCGTCC AAACGACAGAGCTGGAGGAGACTCAGGAAGCAGAGGCGTCC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.36651599407196 Functional Loss -0.63348400592804 10 ATRN ENSG00000088812 UTR3 Human protein_coding chr20:3630260 chr20:3630249 . . 0 hm6A_associated_SNPs_7144 0 17463246 Multiple continuous traits in DGI samples 0.000534 Johnson and O'Donnell TagSNP rs432647 . Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
51 chr21 18940923 18940923 1 + G A rs428017 18940931 + 18940911 18940951 41 ATTGCTCAGGCTGGTCTCAAACTGCTGGGCTCAGGAGATCC ATTGCTCAGGCTAGTCTCAAACTGCTGGGCTCAGGAGATCC < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0.00147843360900879 Functional Loss -0.998521566390991 13 CXADR ENSG00000154639 UTR3 Human protein_coding chr21:18940931 chr21:18940923 . . 0 hm6A_associated_SNPs_7300 0 30595370 Lung function (FEV1/FVC) 8e-11 GWAS_Catalog TagSNP rs428017 GCST007080 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
52 chr22 29451671 29451671 1 + A G rs4823006 29451688 + 29451668 29451708 41 AGGAGTAGCAGCTGCTAAGGACAGCAGCTTGCATTGCGTGG AGGGGTAGCAGCTGCTAAGGACAGCAGCTTGCATTGCGTGG < 41bp 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0.279211103916168 Functional Loss -0.720788896083832 4 ZNRF3 ENSG00000183579 UTR3 Human protein_coding chr22:29451688 chr22:29451671 . . 0 hm6A_associated_SNPs_7407 0 20935629 Waist-hip ratio 1e-11 GWAS_Catalog TagSNP rs4823006 GCST000829 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
53 chrX 25014784 25014784 1 + A G rs11573534 25014796 + 25014776 25014816 41 GATACTCTAACAATCCATTAACATGTGTAGGGGTTACGGTG GATACTCTGACAATCCATTAACATGTGTAGGGGTTACGGTG < 41bp 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 1 0.0140863955020905 Functional Loss -0.98591360449791 9 POLA1 ENSG00000101868 UTR3 Human protein_coding chrX:25014796 chrX:25014784 . . 0 hm6A_associated_SNPs_7520 0 16252231 Parkinson's disease 0.00078045 Johnson and O'Donnell TagSNP rs11573534 . High-resolution whole-genome association study of Parkinson disease.
54 chr1 47139103 47139103 1 + C A rs1025806 47139103 + 47139083 47139123 41 GGAAGACCATAGCTTCAATGCCAAGCCTTTTCCTTCAGAAC GGAAGACCATAGCTTCAATGACAAGCCTTTTCCTTCAGAAC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.895518600940704 Functional Gain 0.895518600940704 21 TEX38 ENSG00000186118 CDS Human protein_coding chr1:47139103 chr1:47139103 nonsynonymous SNV 0.990 1 hm6A_associated_SNPs_22837 0 17554300 Multiple complex diseases 0.000524176 Johnson and O'Donnell TagSNP rs1025806 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
55 chr1 62579891 62579891 1 + G A rs12140153 62579891 + 62579871 62579911 41 GCAGAAGAAAGCTGGCCGGGGCCTGGGCCTGAGCATCGTTG GCAGAAGAAAGCTGGCCGGGACCTGGGCCTGAGCATCGTTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.910877823829651 Functional Gain 0.910877823829651 21 PATJ ENSG00000132849 CDS Human protein_coding chr1:62579891 chr1:62579891 nonsynonymous SNV 0.990 4 hm6A_associated_SNPs_22858 0 27494321 Chronotype 3e-08 GWAS_Catalog TagSNP rs12140153 GCST003837 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci.
56 chr1 107599918 107599918 1 + C A rs2232016 107599918 + 107599898 107599938 41 CTCCGCCGAGCTCTTCATAGCCCCCATCAGCGACCAGATGC CTCCGCCGAGCTCTTCATAGACCCCATCAGCGACCAGATGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.993883967399597 Functional Gain 0.993883967399597 21 PRMT6 ENSG00000198890 CDS Human protein_coding chr1:107599918 chr1:107599918 nonsynonymous SNV 0.956 4 hm6A_associated_SNPs_22905 0 30595370 Red cell distribution width 2e-10 GWAS_Catalog TagSNP rs2232016 GCST007074 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
57 chr1 114226143 114226143 1 + G A rs61742849 114226143 + 114226123 114226163 41 TAAGAGTCGAAGAATAGCAGGCTATACGGGCAGTAATGCTG TAAGAGTCGAAGAATAGCAGACTATACGGGCAGTAATGCTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.977168679237366 Functional Gain 0.977168679237366 21 MAGI3 ENSG00000081026 CDS Human protein_coding chr1:114226143 chr1:114226143 nonsynonymous SNV 0.010 1 hm6A_associated_SNPs_22930 0 23568457 Bulimia nervosa 6e-06 GWAS_Catalog TagSNP rs61742849 GCST001958 Genetic variants associated with disordered eating.
58 chr1 159175527 159175527 1 + G A rs13962 159175527 + 159175507 159175547 41 GCCCTGGCTGGCCTGTCCTGGCACAGCTGGCTGTGGGCAGT GCCCTGGCTGGCCTGTCCTGACACAGCTGGCTGTGGGCAGT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.906537652015686 Functional Gain 0.906537652015686 21 ACKR1 ENSG00000213088 CDS Human protein_coding chr1:159175527 chr1:159175527 nonsynonymous SNV 0.100 1 hm6A_associated_SNPs_23022 0 22075330 IgE levels 2e-11 GWAS_Catalog TagSNP rs13962 GCST001316 A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
59 chr1 201845575 201845575 1 + C A rs8024 201845575 + 201845555 201845595 41 CATTTATATTCTAAAACAGACCTATCTATGTTCATAGGACT CATTTATATTCTAAAACAGAACTATCTATGTTCATAGGACT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.968288898468018 Functional Gain 0.968288898468018 21 IPO9 ENSG00000198700 UTR3 Human protein_coding chr1:201845575 chr1:201845575 . . 0 hm6A_associated_SNPs_23118 0 30038396 Educational attainment (years of education) 1e-14 GWAS_Catalog TagSNP rs8024 GCST006442 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
60 chr1 221057662 221057662 1 + G A rs3738182 221057662 + 221057642 221057682 41 GCCCCGGCTGCGGATGGCGAGCAGGACGAGAGGAGCCCCAG GCCCCGGCTGCGGATGGCGAACAGGACGAGAGGAGCCCCAG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.986474931240082 Functional Gain 0.986474931240082 21 HLX ENSG00000136630 CDS Human protein_coding chr1:221057662 chr1:221057662 synonymous SNV . 0 hm6A_associated_SNPs_23183 0 30595370 White blood cell count 4e-08 GWAS_Catalog TagSNP rs3738182 GCST007070 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
61 chr1 231859181 231859181 1 + G A rs11122324 231859181 + 231859161 231859201 41 CTGTGAGATCAGGTGCACTGGCTACGACCTTACTCTTTGTG CTGTGAGATCAGGTGCACTGACTACGACCTTACTCTTTGTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.597786009311676 Functional Gain 0.597786009311676 21 TSNAX-DISC1 ENSG00000162946 UTR3 Human protein_coding chr1:231859181 chr1:231859181 . . 0 hm6A_associated_SNPs_23216 0 17554300 Multiple complex diseases 0.000186842 Johnson and O'Donnell TagSNP rs11122324 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
62 chr2 70038232 70038232 1 + C A rs6546550 70038232 + 70038212 70038252 41 GTTGTAGAAACAAAGAAAAGCCTTCATGACAGAGATGCTGG GTTGTAGAAACAAAGAAAAGACTTCATGACAGAGATGCTGG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.927612900733948 Functional Gain 0.927612900733948 21 ANXA4 ENSG00000196975 intronic Human protein_coding chr2:70038232 chr2:70038232 . . 0 hm6A_associated_SNPs_23347 0 28416818 Prevalent atrial fibrillation 1e-08 GWAS_Catalog TagSNP rs6546550 GCST004301 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.
63 chr2 113832333 113832333 1 + C A rs6743376 113832333 + 113832313 113832353 41 ACTTCCTAACAGAGGCTTGGCCCGCACCAAGGTCCCCATTT ACTTCCTAACAGAGGCTTGGACCGCACCAAGGTCCCCATTT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.798057198524475 Functional Gain 0.798057198524475 21 IL1F10 ENSG00000136697 CDS Human protein_coding chr2:113832333 chr2:113832333 nonsynonymous SNV 0.977 0 hm6A_associated_SNPs_23413 0 24182552 Inflammatory biomarkers 2e-26 GWAS_Catalog TagSNP rs6743376 GCST002255 Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
64 chr2 238990388 238990388 1 + G A rs3210400 238990388 + 238990368 238990408 41 TGTCCAAGGTGAGCGGGCAGGCAGAGGTGGACGACATCCTC TGTCCAAGGTGAGCGGGCAGACAGAGGTGGACGACATCCTC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.945717036724091 Functional Gain 0.945717036724091 21 SCLY ENSG00000132330 CDS Human protein_coding chr2:238990388 chr2:238990388 nonsynonymous SNV 0.038 0 hm6A_associated_SNPs_23589 0 30038396 Highest math class taken 1e-12 GWAS_Catalog TagSNP rs3210400 GCST006574 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
65 chr3 21447336 21447336 1 + G A rs409974 21447336 + 21447316 21447356 41 GGGTCGACCCACACCCCCAGGCCTGCCGACGTCTCCCCCGG GGGTCGACCCACACCCCCAGACCTGCCGACGTCTCCCCCGG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.785383224487305 Functional Gain 0.785383224487305 21 VENTXP7 ENSG00000236380 ncRNA_exonic Human processed_pseudogene chr3:21447336 chr3:21447336 . . 0 hm6A_associated_SNPs_23657 0 24324551 QRS duration in Tripanosoma cruzi seropositivity 9e-06 GWAS_Catalog TagSNP rs409974 GCST002284 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
66 chr3 190363594 190363594 1 + G A rs34879831 190363594 + 190363574 190363614 41 GAGAATGAATTTGGATACAAGCTGTGCATCTTTGACCGAGA GAGAATGAATTTGGATACAAACTGTGCATCTTTGACCGAGA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.95233827829361 Functional Gain 0.95233827829361 21 IL1RAP ENSG00000196083 CDS Human protein_coding chr3:190363594 chr3:190363594 synonymous SNV . 0 hm6A_associated_SNPs_23886 0 29875488 Blood protein levels 3e-32 GWAS_Catalog TagSNP rs34879831 GCST005806 Genomic atlas of the human plasma proteome.
67 chr4 1244218 1244218 1 + G A rs79407053 1244218 + 1244198 1244238 41 AAGGAGGGAACACGTGTGGAGCCCTTGTAGGGGGAGGGGCA AAGGAGGGAACACGTGTGGAACCCTTGTAGGGGGAGGGGCA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.819368839263916 Functional Gain 0.819368839263916 21 CTBP1-AS2 ENSG00000196810 ncRNA_exonic Human antisense chr4:1244218 chr4:1244218 . . 0 hm6A_associated_SNPs_23916 0 30718926 Type 2 diabetes 1e-24 GWAS_Catalog TagSNP rs79407053 GCST007847 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
68 chr5 82815408 82815408 1 + G A rs2287926 82815408 + 82815388 82815428 41 CAAATTACCCACACCTACTGGCAGTACCAAGAAGCCCTGGG CAAATTACCCACACCTACTGACAGTACCAAGAAGCCCTGGG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.93188738822937 Functional Gain 0.93188738822937 21 VCAN ENSG00000038427 CDS Human protein_coding chr5:82815408 chr5:82815408 nonsynonymous SNV 0.079 3 hm6A_associated_SNPs_24261 3 28724990 Lean body mass 5e-07 GWAS_Catalog TagSNP rs2287926 GCST005036 Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
69 chr6 28227604 28227604 1 + C A rs1635 28227604 + 28227584 28227624 41 GCTAGATTCTGACGAACATACCCCAGTTGAGGATGAAGAAG GCTAGATTCTGACGAACATAACCCAGTTGAGGATGAAGAAG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.999819874763489 Functional Gain 0.999819874763489 21 NKAPL ENSG00000189134 CDS Human protein_coding chr6:28227604 chr6:28227604 nonsynonymous SNV 0.011 0 hm6A_associated_SNPs_24518 0 22037552 Schizophrenia 7e-12 GWAS_Catalog TagSNP rs1635 GCST001299 Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2.
70 chr6 30139699 30139699 1 + G A rs929156 30139699 + 30139679 30139719 41 GTACACCCGGCAGAAGAAGAGCCTGCCAGACAGCCCCCTGC GTACACCCGGCAGAAGAAGAACCTGCCAGACAGCCCCCTGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.807604312896729 Functional Gain 0.807604312896729 21 TRIM15 ENSG00000204610 CDS Human protein_coding chr6:30139699 chr6:30139699 nonsynonymous SNV 0.005 0 hm6A_associated_SNPs_24544 0 17804836 Rheumatoid Arthritis 2.95e-13 Johnson and O'Donnell TagSNP rs929156 . TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.
71 chr6 31106459 31106459 1 + C A rs1265097 31106459 + 31106439 31106479 41 AGACCCCAGCTTTACAAGGACCCCAGCTCCTTAACACAGAT AGACCCCAGCTTTACAAGGAACCCAGCTCCTTAACACAGAT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.891171276569366 Functional Gain 0.891171276569366 21 PSORS1C1 ENSG00000204540 CDS Human protein_coding chr6:31106459 chr6:31106459 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_24552 0 28552196 Height 1e-10 GWAS_Catalog TagSNP rs1265097 GCST008163 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
72 chr6 32412480 32412480 1 + G A rs7194 32412480 + 32412460 32412500 41 AAGAAACTTCTGCTTTAATGGCTTTACAAAGCTGGCAATAT AAGAAACTTCTGCTTTAATGACTTTACAAAGCTGGCAATAT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.512715280056 Functional Gain 0.512715280056 21 HLA-DRA ENSG00000204287 UTR3 Human protein_coding chr6:32412480 chr6:32412480 . . 0 hm6A_associated_SNPs_24559 0 28448500 Waist-to-hip ratio adjusted for body mass index 6e-09 GWAS_Catalog TagSNP rs7194 GCST004576 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.
73 chr6 32862607 32862607 1 + T A rs3749982 32862607 + 32862587 32862627 41 CGGCAGTATGCCTGAGGGGGTCCTCCGTGTTCGCGCCTCCC CGGCAGTATGCCTGAGGGGGACCTCCGTGTTCGCGCCTCCC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.924162745475769 Functional Gain 0.924162745475769 21 LOC100294145 ENSG00000234515;ENSG00000235301 intergenic Human other chr6:32862607 chr6:32862607 . . 0 hm6A_associated_SNPs_24562 0 22993228 Disc degeneration (lumbar) 1e-07 GWAS_Catalog TagSNP rs3749982 GCST001687 Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
74 chr6 33086448 33086448 1 + G A rs1883414 33086448 + 33086428 33086468 41 ACCTATAGACTGTAACTATGGCAGTAGAGTTTGATACCTGT ACCTATAGACTGTAACTATGACAGTAGAGTTTGATACCTGT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.878302574157715 Functional Gain 0.878302574157715 21 HLA-DPB2 ENSG00000224557 ncRNA_exonic Human transcribed_unprocessed_pseudogene chr6:33086448 chr6:33086448 . . 0 hm6A_associated_SNPs_24570 0 21399633 Nephropathy 5e-09 GWAS_Catalog TagSNP rs1883414 GCST001009 Genome-wide association study identifies susceptibility loci for IgA nephropathy.
75 chr6 144081609 144081609 1 + C A rs2073214 144081609 + 144081589 144081629 41 CTGCTCCTCCTAAGCCTAGACCCAAACCTAAACCCAAAAAA CTGCTCCTCCTAAGCCTAGAACCAAACCTAAACCCAAAAAA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.898855209350586 Functional Gain 0.898855209350586 21 PHACTR2 ENSG00000112419 CDS Human protein_coding chr6:144081609 chr6:144081609 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_24719 0 25886283 Magnesium levels 8e-06 GWAS_Catalog TagSNP rs2073214 GCST002860 Genome-wide association study of serum minerals levels in children of different ethnic background.
76 chr6 158929442 158929442 1 + T A rs9456307 158929442 + 158929422 158929462 41 CGACCCATTTTTTTCCCAGATCAAGATGACATGACATCACT CGACCCATTTTTTTCCCAGAACAAGATGACATGACATCACT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.861635088920593 Functional Gain 0.861635088920593 21 TULP4 ENSG00000130338 UTR3 Human protein_coding chr6:158929442 chr6:158929442 . . 0 hm6A_associated_SNPs_24758 0 20881960 Height 2e-09 GWAS_Catalog TagSNP rs9456307 GCST000817 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
77 chr7 94903477 94903477 1 + G A rs61749905 94903477 + 94903457 94903497 41 CAGTAGGTTTTCTGCAGGTAGCAGGTACGGTTGTGTGATTA CAGTAGGTTTTCTGCAGGTAACAGGTACGGTTGTGTGATTA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.764895558357239 Functional Gain 0.764895558357239 21 PPP1R9A ENSG00000158528 CDS Human protein_coding chr7:94903477 chr7:94903477 nonsynonymous SNV 0.964 0 hm6A_associated_SNPs_24931 0 28552196 Waist circumference 6e-06 GWAS_Catalog TagSNP rs61749905 GCST008151 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
78 chr7 105658460 105658460 1 + C A rs73195662 105658460 + 105658440 105658480 41 TAAAGTGGACTGTGAAACAACCCCCATCTATATTCTCAGAA TAAAGTGGACTGTGAAACAAACCCCATCTATATTCTCAGAA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.832878470420837 Functional Gain 0.832878470420837 21 CDHR3 ENSG00000128536 CDS Human protein_coding chr7:105658460 chr7:105658460 nonsynonymous SNV 0.438 0 hm6A_associated_SNPs_24986 0 30450575 PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia 1e-06 GWAS_Catalog TagSNP rs73195662 GCST007540 Genetic predisposition to PEG-asparaginase hypersensitivity in children treated according to NOPHO ALL2008.
79 chr7 130025713 130025713 1 + G A rs77792157 130025713 + 130025693 130025733 41 AGGCTGCTGTGACAGCCCTGGCCTCTCTCTACGGGACCAAG AGGCTGCTGTGACAGCCCTGACCTCTCTCTACGGGACCAAG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.76825487613678 Functional Gain 0.76825487613678 21 CPA1 ENSG00000091704 CDS Human protein_coding chr7:130025713 chr7:130025713 nonsynonymous SNV 0.363 0 hm6A_associated_SNPs_25034 0 30718926 Type 2 diabetes 3e-09 GWAS_Catalog TagSNP rs77792157 GCST007847 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
80 chr7 150696111 150696111 1 + T A rs1799983 150696111 + 150696091 150696131 41 CTGCTGCAGGCCCCAGATGATCCCCCAGAACTCTTCCTTCT CTGCTGCAGGCCCCAGATGAACCCCCAGAACTCTTCCTTCT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.873398900032043 Functional Gain 0.873398900032043 21 NOS3 ENSG00000164867 CDS Human protein_coding chr7:150696111 chr7:150696111 nonsynonymous SNV 0.954 0 hm6A_associated_SNPs_25090 0 30383316 Stroke 2e-08 GWAS_Catalog TagSNP rs1799983 GCST007248 Genome-Wide Meta-analysis identifies three novel loci associated with stroke.
81 chr8 8092025 8092025 1 + G A rs2980436 8092025 + 8092005 8092045 41 CACGAGGCTGTCCACACGGAGCCTTTGGATGAGCTGTACGA CACGAGGCTGTCCACACGGAACCTTTGGATGAGCTGTACGA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.867562234401703 Functional Gain 0.867562234401703 21 FAM86B3P ENSG00000173295 ncRNA_exonic Human transcribed_unprocessed_pseudogene chr8:8092025 chr8:8092025 . . 0 hm6A_associated_SNPs_25127 0 28991256 Schizophrenia 2e-08 GWAS_Catalog TagSNP rs2980436 GCST004946 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.
82 chr8 121061879 121061879 1 + G A rs4871827 121061879 + 121061859 121061899 41 TGTAGACTACCGGACCGTGAGCAATCTGATTCTGACGGGCC TGTAGACTACCGGACCGTGAACAATCTGATTCTGACGGGCC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.916506886482239 Functional Gain 0.916506886482239 21 DEPTOR ENSG00000155792 CDS Human protein_coding chr8:121061879 chr8:121061879 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_25256 0 30598549 Heel bone mineral density 1e-09 GWAS_Catalog TagSNP rs4871827 GCST006979 An atlas of genetic influences on osteoporosis in humans and mice.
83 chr9 133928345 133928345 1 + C A rs12349966 133928345 + 133928325 133928365 41 CGCGTCAGTCCCGGCCCCAGCCCTGCCGGTCAGTAAAGACA CGCGTCAGTCCCGGCCCCAGACCTGCCGGTCAGTAAAGACA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.87587034702301 Functional Gain 0.87587034702301 21 LAMC3 ENSG00000050555 CDS Human protein_coding chr9:133928345 chr9:133928345 nonsynonymous SNV 0.154 0 hm6A_associated_SNPs_25490 0 30595370 Balding type 1 7e-09 GWAS_Catalog TagSNP rs12349966 GCST007038 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
84 chr9 135866648 135866648 1 + C A rs4962034 135866648 + 135866628 135866668 41 CCTGCTGCCAAGTGTGGGAGCCTGGCTGGGTCTTTCTCAGC CCTGCTGCCAAGTGTGGGAGACTGGCTGGGTCTTTCTCAGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.913576424121857 Functional Gain 0.913576424121857 21 GFI1B ENSG00000165702 UTR3 Human protein_coding chr9:135866648 chr9:135866648 . . 0 hm6A_associated_SNPs_25498 0 30595370 Red blood cell count 2e-16 GWAS_Catalog TagSNP rs4962034 GCST007069 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
85 chr11 60617834 60617834 1 + C A rs530963 60617834 + 60617814 60617854 41 AGGCCTTCCATGGCCAACAACCATGTCAGACACAGCACCTC AGGCCTTCCATGGCCAACAAACATGTCAGACACAGCACCTC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.989316284656525 Functional Gain 0.989316284656525 21 CCDC86 ENSG00000256813 ncRNA_intronic Human antisense chr11:60617834 chr11:60617834 . . 0 hm6A_associated_SNPs_25953 0 17052657 Parkinson's disease 0.000813507 Johnson and O'Donnell TagSNP rs530963 . Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
86 chr12 129100757 129100757 1 + C A rs117965239 129100757 + 129100737 129100777 41 GAAATAGCCAGTTTCAGCAGCCTTTCAGGGACTCAGCCCAT GAAATAGCCAGTTTCAGCAGACTTTCAGGGACTCAGCCCAT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.987198829650879 Functional Gain 0.987198829650879 21 TMEM132C ENSG00000181234 CDS Human protein_coding chr12:129100757 chr12:129100757 nonsynonymous SNV 0.991 2 hm6A_associated_SNPs_26449 0 29875488 Blood protein levels 4e-12 GWAS_Catalog TagSNP rs117965239 GCST005806 Genomic atlas of the human plasma proteome.
87 chr15 74219582 74219582 1 + G A rs3825942 74219582 + 74219562 74219602 41 CTCCCAGCAACGGCACGGGGGCTCCGCCTCCTCGGTCTCGG CTCCCAGCAACGGCACGGGGACTCCGCCTCCTCGGTCTCGG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.991508543491364 Functional Gain 0.991508543491364 21 LOXL1 ENSG00000129038 CDS Human protein_coding chr15:74219582 chr15:74219582 nonsynonymous SNV 0.982 1 hm6A_associated_SNPs_26887 1 17690259 Glaucoma (exfoliation) 3e-21 GWAS_Catalog TagSNP rs3825942 GCST000067 Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
88 chr16 28915527 28915527 1 + G A rs10499 28915527 + 28915507 28915547 41 AAGATGAAAGAAGGAAGTGAGCATCCTTTTGCTCTGTCCTC AAGATGAAAGAAGGAAGTGAACATCCTTTTGCTCTGTCCTC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.723393082618713 Functional Gain 0.723393082618713 21 ATP2A1 ENSG00000196296 UTR3 Human protein_coding chr16:28915527 chr16:28915527 . . 0 hm6A_associated_SNPs_27149 2 30150663 Cannabis use 1e-09 GWAS_Catalog TagSNP rs10499 GCST006421 GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia.
89 chr16 50335074 50335074 1 + C A rs78534766 50335074 + 50335054 50335094 41 GGGCACGGGCAGCAGCGGGACCCCTACCTCAAGGAGATGAA GGGCACGGGCAGCAGCGGGAACCCTACCTCAAGGAGATGAA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.822416484355927 Functional Gain 0.822416484355927 21 ADCY7 ENSG00000121281 CDS Human protein_coding chr16:50335074 chr16:50335074 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_27174 0 28067908 Ulcerative colitis 3e-13 GWAS_Catalog TagSNP rs78534766 GCST004133 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
90 chr16 50744624 50744624 1 + C A rs2066842 50744624 + 50744604 50744644 41 CAGATGTGGGCATGGCTGGACCCCCGCAGAAGAGCCCAGCC CAGATGTGGGCATGGCTGGAACCCCGCAGAAGAGCCCAGCC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.892351984977722 Functional Gain 0.892351984977722 21 NOD2 ENSG00000167207 CDS Human protein_coding chr16:50744624 chr16:50744624 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_27176 0 17804789 Crohn's disease 3.49e-07 Johnson and O'Donnell TagSNP rs2066842 . Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
91 chr16 66638245 66638245 1 + G A rs35320143 66638245 + 66638225 66638265 41 GCCCCCAAGAAAAAGAGAGGGCATGGGTTGCGGAGCCGACA GCCCCCAAGAAAAAGAGAGGACATGGGTTGCGGAGCCGACA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.90106189250946 Functional Gain 0.90106189250946 21 CMTM3 ENSG00000140931 UTR5 Human protein_coding chr16:66638245 chr16:66638245 . . 0 hm6A_associated_SNPs_27212 0 25742292 Number of children (6+ vs. 0 or 1) 9e-06 GWAS_Catalog TagSNP rs35320143 GCST002800 Genome-wide association study of parity in Bangladeshi women.
92 chr16 89985918 89985918 1 + C A rs1805006 89985918 + 89985898 89985938 41 TGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGAGCAA TGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGAGCAA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.994944930076599 Functional Gain 0.994944930076599 21 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985918 chr16:89985918 nonsynonymous SNV 0.816 4 hm6A_associated_SNPs_27322 3 30531825 Red vs. brown/black hair color 2e-308 GWAS_Catalog TagSNP rs1805006 GCST006986 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
93 chr17 17696755 17696755 1 + C A rs11649804 17696755 + 17696735 17696775 41 CAGAGCAGGGCGCCCAGGTGCCCTTTCGGACTCACTCCCTG CAGAGCAGGGCGCCCAGGTGACCTTTCGGACTCACTCCCTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.997400522232056 Functional Gain 0.997400522232056 21 RAI1 ENSG00000108557 CDS Human protein_coding chr17:17696755 chr17:17696755 nonsynonymous SNV 0.996 4 hm6A_associated_SNPs_27426 1 28928442 Myringotomy 3e-07 GWAS_Catalog TagSNP rs11649804 GCST005015 Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.
94 chr18 13826678 13826678 1 + C A rs143262370 13826678 + 13826658 13826698 41 CAGCCAAGAGATGCGGAAGACCTTTAAGGAGATTATTTGCT CAGCCAAGAGATGCGGAAGAACTTTAAGGAGATTATTTGCT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.98870313167572 Functional Gain 0.98870313167572 21 MC5R ENSG00000176136 CDS Human protein_coding chr18:13826678 chr18:13826678 nonsynonymous SNV 0.179 3 hm6A_associated_SNPs_27737 0 27618447 Systolic blood pressure 9e-06 GWAS_Catalog TagSNP rs143262370 GCST006021 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
95 chr19 11222300 11222300 1 + G A rs11669576 11222300 + 11222280 11222320 41 AGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAG AGCTGGACCCCCACACGAAGACCTGCAAGGCTGTGGGTGAG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.703925549983978 Functional Gain 0.703925549983978 21 LDLR ENSG00000130164 CDS Human protein_coding chr19:11222300 chr19:11222300 nonsynonymous SNV 0.887 1 hm6A_associated_SNPs_27948 3 31217584 Low density lipoprotein cholesterol levels 1e-12 GWAS_Catalog TagSNP rs11669576 GCST008037 Genetic analyses of diverse populations improves discovery for complex traits.
96 chr19 18892728 18892728 1 + C A rs10038 18892728 + 18892708 18892748 41 GCAACCCTTGCCCAGCCCAGCCATCAAGAACTTCTGATCTC GCAACCCTTGCCCAGCCCAGACATCAAGAACTTCTGATCTC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.722368121147156 Functional Gain 0.722368121147156 21 CRTC1 ENSG00000105662 UTR3 Human protein_coding chr19:18892728 chr19:18892728 . . 0 hm6A_associated_SNPs_28000 0 25057126 Osteoarthritis biomarkers 7e-06 GWAS_Catalog TagSNP rs10038 GCST002540 Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
97 chr19 19329924 19329924 1 + C A rs2228603 19329924 + 19329904 19329944 41 CGGGCCAGCGACAGGACTTGCCCATCCTGGTGGCCAAGGAC CGGGCCAGCGACAGGACTTGACCATCCTGGTGGCCAAGGAC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.984965920448303 Functional Gain 0.984965920448303 21 NCAN ENSG00000130287 CDS Human protein_coding chr19:19329924 chr19:19329924 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_28004 0 27286809 C-reactive protein levels or total cholesterol levels (pleiotropy) 1e-35 GWAS_Catalog TagSNP rs2228603 GCST003678 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
98 chr19 49132867 49132867 1 + G A rs61751862 49132867 + 49132847 49132887 41 CCTGGGCTGTCCGCAGCTGGGCTACGCCGCGGCCCGTGCCT CCTGGGCTGTCCGCAGCTGGACTACGCCGCGGCCCGTGCCT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.963203907012939 Functional Gain 0.963203907012939 21 SPHK2 ENSG00000063176 CDS Human protein_coding chr19:49132867 chr19:49132867 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_28168 0 30595370 Red cell distribution width 1e-13 GWAS_Catalog TagSNP rs61751862 GCST007074 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
99 chr19 56001665 56001665 1 + C A rs114976626 56001665 + 56001645 56001685 41 CTGGCTGTCTCCACTCCCAGCCCCCCGCCCAGCTGGGAACC CTGGCTGTCTCCACTCCCAGACCCCCGCCCAGCTGGGAACC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.944682478904724 Functional Gain 0.944682478904724 21 SSC5D ENSG00000179954 CDS Human protein_coding chr19:56001665 chr19:56001665 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_28249 0 28552196 Height 4e-07 GWAS_Catalog TagSNP rs114976626 GCST008163 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
100 chr19 57802911 57802911 1 + G A rs36032958 57802911 + 57802891 57802931 41 ATTATCCATACTGGGGAGAGGCCCTTTAAGTGCCTTGAGTG ATTATCCATACTGGGGAGAGACCCTTTAAGTGCCTTGAGTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.999631881713867 Functional Gain 0.999631881713867 21 ZNF460 ENSG00000197714 CDS Human protein_coding chr19:57802911 chr19:57802911 synonymous SNV . 0 hm6A_associated_SNPs_28261 0 26053186 3-hydroxypropylmercapturic acid levels in smokers 5e-06 GWAS_Catalog TagSNP rs36032958 GCST002956 Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer.
101 chr20 62327582 62327582 1 + G A rs2297441 62327582 + 62327562 62327602 41 GGACAGGGCTCTCTAATAAAGCTGCTGGCAGTGCCCAGGAC GGACAGGGCTCTCTAATAAAACTGCTGGCAGTGCCCAGGAC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.819512009620667 Functional Gain 0.819512009620667 21 RTEL1-TNFRSF6B ENSG00000258366 UTR3 Human protein_coding chr20:62327582 chr20:62327582 . . 0 hm6A_associated_SNPs_28445 0 21297633 Ulcerative colitis 2e-10 GWAS_Catalog TagSNP rs2297441 GCST000964 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
102 chr3 127872506 127872506 1 - C T rs11711710 127872506 - 127872486 127872526 41 GGCACCGAGAAGCACGAGAAGCCCAGATCGAGCGTGATGCC GGCACCGAGAAGCACGAGAAACCCAGATCGAGCGTGATGCC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.903420448303223 Functional Gain 0.903420448303223 21 EEFSEC ENSG00000132394 CDS Human protein_coding chr3:127872506 chr3:127872506 synonymous SNV . 0 hm6A_associated_SNPs_48892 0 26634245 Post bronchodilator FEV1 3e-06 GWAS_Catalog TagSNP rs11711710 GCST003262 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.
103 chr4 71554974 71554974 1 - C T rs111485612 71554974 - 71554954 71554994 41 CTCAGCCTCATCTACCTGAGGCACTGGTTTTGCAAAGGCCT CTCAGCCTCATCTACCTGAGACACTGGTTTTGCAAAGGCCT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.954616129398346 Functional Gain 0.954616129398346 21 UTP3 ENSG00000132467 CDS Human protein_coding chr4:71554974 chr4:71554974 nonsynonymous SNV 0.827 0 hm6A_associated_SNPs_49013 0 29093273 Glucagon levels in response to oral glucose tolerance test (120 minutes) 7e-06 GWAS_Catalog TagSNP rs111485612 GCST005163 Genetic determinants of circulating GIP and GLP-1 concentrations.
104 chr4 184942348 184942348 1 - C T rs2309957 184942348 - 184942328 184942368 41 TAAATCTGAATGCTTTGGAAGCACTTTGAGATCCCAAAGTG TAAATCTGAATGCTTTGGAAACACTTTGAGATCCCAAAGTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.900230884552002 Functional Gain 0.900230884552002 21 STOX2 ENSG00000173320 UTR3 Human protein_coding chr4:184942348 chr4:184942348 . . 0 hm6A_associated_SNPs_49061 0 30535121 Macular thickness 1e-14 GWAS_Catalog TagSNP rs2309957 GCST006976 Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort.
105 chr5 110406742 110406742 1 - C T rs3806933 110406742 - 110406722 110406762 41 AAAAACGCCTACTCTTGGTGGCTAGGGGCACCTTAGGGGCT AAAAACGCCTACTCTTGGTGACTAGGGGCACCTTAGGGGCT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.778391361236572 Functional Gain 0.778391361236572 21 TSLP ENSG00000145777 UTR5 Human protein_coding chr5:110406742 chr5:110406742 . . 0 hm6A_associated_SNPs_49127 0 25017104 Eosinophilic esophagitis 2e-08 GWAS_Catalog TagSNP rs3806933 GCST002527 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
106 chr6 3114457 3114457 1 - C T rs17548629 3114457 - 3114437 3114477 41 TTTCCTGTTCCCTCTCCAGGGCACTCAGGCTGGGTGAAGGT TTTCCTGTTCCCTCTCCAGGACACTCAGGCTGGGTGAAGGT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.541826248168945 Functional Gain 0.541826248168945 21 RIPK1 ENSG00000137275 UTR3 Human protein_coding chr6:3114457 chr6:3114457 . . 0 hm6A_associated_SNPs_49226 0 28000841 Idiopathic osteonecrosis of the femoral head 5e-06 GWAS_Catalog TagSNP rs17548629 GCST003918 Genome-wide association scans for idiopathic osteonecrosis of the femoral head in a Korean population.
107 chr6 32862740 32862740 1 - C T rs241407 32862740 - 32862720 32862760 41 CGCCGGAACTCTTCTTCCAGGCAGGCGTTCCGAGACTCCGC CGCCGGAACTCTTCTTCCAGACAGGCGTTCCGAGACTCCGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.903744995594025 Functional Gain 0.903744995594025 21 LOC100294145 ENSG00000234515;ENSG00000235301 intergenic Human other chr6:32862740 chr6:32862740 . . 0 hm6A_associated_SNPs_49300 0 17632545 Type I Diabetes 2.39e-10 Johnson and O'Donnell TagSNP rs241407 . A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
108 chr9 78505692 78505692 1 - C T rs76937529 78505692 - 78505672 78505712 41 GACCAGCGGGAGCGGTACAGGCAGCGACCGGGCGCCCCCTC GACCAGCGGGAGCGGTACAGACAGCGACCGGGCGCCCCCTC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.95803302526474 Functional Gain 0.95803302526474 21 PCSK5 ENSG00000099139 UTR5 Human protein_coding chr9:78505692 chr9:78505692 . . 0 hm6A_associated_SNPs_49720 0 30595370 Waist-hip ratio 5e-09 GWAS_Catalog TagSNP rs76937529 GCST007067 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
109 chr9 116815777 116815777 1 - C T rs3810928 116815777 - 116815757 116815797 41 CCATGTATGTCAAAACAAAGGCCATTTCTGTCCTGGGGACC CCATGTATGTCAAAACAAAGACCATTTCTGTCCTGGGGACC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.954548597335815 Functional Gain 0.954548597335815 21 ZNF618 ENSG00000157657 UTR3 Human protein_coding chr9:116815777 chr9:116815777 . . 0 hm6A_associated_SNPs_49742 0 17554300 Multiple complex diseases 0.000574107 Johnson and O'Donnell TagSNP rs3810928 . Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
110 chr14 55227152 55227152 1 - G T rs149416017 55227152 - 55227132 55227172 41 CTCTGGCAGGGGGGCGACGGCCAGCTCCCCATCGCAGCTGC CTCTGGCAGGGGGGCGACGGACAGCTCCCCATCGCAGCTGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.71671724319458 Functional Gain 0.71671724319458 21 SAMD4A ENSG00000020577 CDS Human protein_coding chr14:55227152 chr14:55227152 nonsynonymous SNV 0.876 1 hm6A_associated_SNPs_50369 0 28521775 Subclinical trait of interstitial lung disease (basilar percentage of high attenuation areas on CT scan) 3e-08 GWAS_Catalog TagSNP rs149416017 GCST004526 Genome-wide association study of subclinical interstitial lung disease in MESA.
111 chr15 31362352 31362352 1 - C T rs2241493 31362352 - 31362332 31362372 41 CAGCAAAAATGAAGAGGAAAGCAAACAGGTGGAGACTCAGC CAGCAAAAATGAAGAGGAAAACAAACAGGTGGAGACTCAGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.800651669502258 Functional Gain 0.800651669502258 21 TRPM1 ENSG00000134160 CDS Human protein_coding chr15:31362352 chr15:31362352 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_50464 2 17362836 Amyotrophic Lateral Sclerosis (ALS) 0.0001026 Johnson and O'Donnell TagSNP rs2241493 . Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
112 chr15 41136885 41136885 1 - C T rs11549914 41136885 - 41136865 41136905 41 CAGGCAGTCGGCTCCCGCGGGCAGCCCAGGGGGCGCGGGCG CAGGCAGTCGGCTCCCGCGGACAGCCCAGGGGGCGCGGGCG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.93752783536911 Functional Gain 0.93752783536911 21 SPINT1 ENSG00000166145 CDS Human protein_coding chr15:41136885 chr15:41136885 nonsynonymous SNV 0.383 0 hm6A_associated_SNPs_50479 0 29875488 Blood protein levels 6e-19 GWAS_Catalog TagSNP rs11549914 GCST005806 Genomic atlas of the human plasma proteome.
113 chr16 3583173 3583173 1 - C T rs3751837 3583173 - 3583153 3583193 41 GACACCCACAAACACATGAGGCAGAACAGAAAACCAACCTG GACACCCACAAACACATGAGACAGAACAGAAAACCAACCTG Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.984603703022003 Functional Gain 0.984603703022003 21 CLUAP1 ENSG00000103351 UTR3 Human protein_coding chr16:3583173 chr16:3583173 . . 0 hm6A_associated_SNPs_50646 0 30595370 Lung function (FVC) 1e-30 GWAS_Catalog TagSNP rs3751837 GCST007081 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
114 chr17 19474875 19474875 1 - C T rs111653425 19474875 - 19474855 19474895 41 ACATAGTTACCTGCTGACAGGCTTTTTTCCAATTTAGCTGA ACATAGTTACCTGCTGACAGACTTTTTTCCAATTTAGCTGA Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.799413323402405 Functional Gain 0.799413323402405 21 SLC47A1 ENSG00000142494 CDS Human protein_coding chr17:19474875 chr17:19474875 nonsynonymous SNV 0.885 1 hm6A_associated_SNPs_50851 0 31015462 Creatinine levels 1e-08 GWAS_Catalog TagSNP rs111653425 GCST007877 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
115 chr17 73519413 73519413 1 - C T rs8064529 73519413 - 73519393 73519433 41 ACTGCTTGGAAACTTACCGGGCACCTCCATCAGGAAGGTGT ACTGCTTGGAAACTTACCGGACACCTCCATCAGGAAGGTGT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.761476278305054 Functional Gain 0.761476278305054 21 TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73519413 chr17:73519413 nonsynonymous SNV 0.866 0 hm6A_associated_SNPs_50942 2 30595370 Lung function (FEV1/FVC) 1e-09 GWAS_Catalog TagSNP rs8064529 GCST007080 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
116 chr19 1026477 1026477 1 - G T rs4807440 1026477 - 1026457 1026497 41 GCGGCCGCGGACTTCCTGAGCCCCCTCGGTCGCCCCCGGAC GCGGCCGCGGACTTCCTGAGACCCCTCGGTCGCCCCCGGAC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.623561441898346 Functional Gain 0.623561441898346 21 CNN2 ENSG00000064666 UTR5 Human protein_coding chr19:1026477 chr19:1026477 . . 0 hm6A_associated_SNPs_51059 0 27863252 Monocyte count 3e-11 GWAS_Catalog TagSNP rs4807440 GCST004625 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
117 chr20 36952342 36952342 1 - C T rs5741804 36952342 - 36952322 36952362 41 GGTATACCATGCGGTCATGGGCAGCGGGAAACTCCATCACT GGTATACCATGCGGTCATGGACAGCGGGAAACTCCATCACT Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.746500968933105 Functional Gain 0.746500968933105 21 BPI ENSG00000101425 CDS Human protein_coding chr20:36952342 chr20:36952342 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_51267 0 29367611 Carboplatin disposition in epthelial ovarian cancer 9e-06 GWAS_Catalog TagSNP rs5741804 GCST005351 Genome-wide association study of paclitaxel and carboplatin disposition in women with epithelial ovarian cancer.
118 chr20 62328742 62328742 1 - C T rs909341 62328742 - 62328722 62328762 41 TGGCACTGCTCTGAGCTGGAGCTGCTGGCTGAGAAGGTGCC TGGCACTGCTCTGAGCTGGAACTGCTGGCTGAGAAGGTGCC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.678422451019287 Functional Gain 0.678422451019287 21 TNFRSF6B ENSG00000243509 CDS Human protein_coding chr20:62328742 chr20:62328742 synonymous SNV . 0 hm6A_associated_SNPs_51332 0 25574825 Atopic dermatitis 8e-10 GWAS_Catalog TagSNP rs909341 GCST002737 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
119 chr21 45182064 45182064 1 - C T rs1299 45182064 - 45182044 45182084 41 CAAACATCCACATGGCACAAGCAGGGCCGGCCACTCCAGGC CAAACATCCACATGGCACAAACAGGGCCGGCCACTCCAGGC Direct Gain NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA NA 0 0.917375445365906 Functional Gain 0.917375445365906 21 PDXK ENSG00000160209 UTR3 Human protein_coding chr21:45182064 chr21:45182064 . . 0 hm6A_associated_SNPs_51369 0 16252231 Parkinson's disease 0.045228 Johnson and O'Donnell TagSNP rs1299 . High-resolution whole-genome association study of Parkinson disease.