| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.68941205A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.69334985A>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| CPM transcript variant 1 | NM_001874.4:c. | N/A | Intron Variant |
| CPM transcript variant 3 | NM_001005502.2:c. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant 2 | NM_198320.3:c. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X1 | XR_001748577.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X2 | XR_001748578.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X3 | XR_001748579.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X4 | XR_001748580.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X5 | XR_001748581.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X6 | XR_001748582.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X7 | XR_001748583.1:n. | N/A | Genic Upstream Transcript Variant |
| CPM transcript variant X8 | XR_001748584.1:n. | N/A | Genic Upstream Transcript Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | A=0.371 | G=0.629 |
| 1000Genomes | American | Sub | 694 | A=0.580 | G=0.420 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.655 | G=0.345 |
| 1000Genomes | Europe | Sub | 1006 | A=0.649 | G=0.351 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.537 | G=0.463 |
| 1000Genomes | South Asian | Sub | 978 | A=0.490 | G=0.510 |
| The Genome Aggregation Database | African | Sub | 7884 | A=0.438 | G=0.562 |
| The Genome Aggregation Database | American | Sub | 798 | A=0.610 | G=0.390 |
| The Genome Aggregation Database | East Asian | Sub | 1496 | A=0.626 | G=0.374 |
| The Genome Aggregation Database | Europe | Sub | 17658 | A=0.675 | G=0.324 |
| The Genome Aggregation Database | Global | Study-wide | 28118 | A=0.603 | G=0.396 |
| The Genome Aggregation Database | Other | Sub | 282 | A=0.570 | G=0.430 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.547 | G=0.452 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 20201924 | Genome-wide association study of alcohol dependence implicates a region on chromosome 11. | Edenberg HJ | Alcohol Clin Exp Res |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs1144962 | 0.00016 | alcohol dependence(early age of onset) | 20201924 |
| rs1144962 | 0.0009 | alcohol dependence | 20201924 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
|---|---|---|---|---|---|---|---|
| There is no eQTL annotation for this SNP | |||||||
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
There is no significant Hi-C chromatin interaction data for this SNP.
| Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
|---|---|---|---|---|
| chr12 | 69285188 | 69285319 | E067 | -49666 |
| chr12 | 69297034 | 69297097 | E067 | -37888 |
| chr12 | 69297604 | 69297644 | E067 | -37341 |
| chr12 | 69297963 | 69298051 | E067 | -36934 |
| chr12 | 69298062 | 69298145 | E067 | -36840 |
| chr12 | 69345410 | 69345914 | E067 | 10425 |
| chr12 | 69353386 | 69354239 | E067 | 18401 |
| chr12 | 69354307 | 69354439 | E067 | 19322 |
| chr12 | 69368125 | 69368196 | E067 | 33140 |
| chr12 | 69369714 | 69369784 | E067 | 34729 |
| chr12 | 69369791 | 69369958 | E067 | 34806 |
| chr12 | 69370180 | 69370234 | E067 | 35195 |
| chr12 | 69370291 | 69370645 | E067 | 35306 |
| chr12 | 69370683 | 69370959 | E067 | 35698 |
| chr12 | 69370982 | 69371064 | E067 | 35997 |
| chr12 | 69371196 | 69372472 | E067 | 36211 |
| chr12 | 69372554 | 69372799 | E067 | 37569 |
| chr12 | 69285188 | 69285319 | E068 | -49666 |
| chr12 | 69292187 | 69292246 | E068 | -42739 |
| chr12 | 69292494 | 69292544 | E068 | -42441 |
| chr12 | 69292714 | 69292847 | E068 | -42138 |
| chr12 | 69292874 | 69292988 | E068 | -41997 |
| chr12 | 69293000 | 69293528 | E068 | -41457 |
| chr12 | 69316271 | 69316315 | E068 | -18670 |
| chr12 | 69316380 | 69316491 | E068 | -18494 |
| chr12 | 69316539 | 69316589 | E068 | -18396 |
| chr12 | 69316828 | 69316939 | E068 | -18046 |
| chr12 | 69317059 | 69317271 | E068 | -17714 |
| chr12 | 69317363 | 69317457 | E068 | -17528 |
| chr12 | 69331118 | 69331186 | E068 | -3799 |
| chr12 | 69331620 | 69331762 | E068 | -3223 |
| chr12 | 69331847 | 69331897 | E068 | -3088 |
| chr12 | 69367986 | 69368080 | E068 | 33001 |
| chr12 | 69368125 | 69368196 | E068 | 33140 |
| chr12 | 69369791 | 69369958 | E068 | 34806 |
| chr12 | 69370180 | 69370234 | E068 | 35195 |
| chr12 | 69370291 | 69370645 | E068 | 35306 |
| chr12 | 69370683 | 69370959 | E068 | 35698 |
| chr12 | 69370982 | 69371064 | E068 | 35997 |
| chr12 | 69371196 | 69372472 | E068 | 36211 |
| chr12 | 69372554 | 69372799 | E068 | 37569 |
| chr12 | 69285188 | 69285319 | E069 | -49666 |
| chr12 | 69285376 | 69285420 | E069 | -49565 |
| chr12 | 69293000 | 69293528 | E069 | -41457 |
| chr12 | 69308835 | 69309316 | E069 | -25669 |
| chr12 | 69309327 | 69309404 | E069 | -25581 |
| chr12 | 69316828 | 69316939 | E069 | -18046 |
| chr12 | 69317059 | 69317271 | E069 | -17714 |
| chr12 | 69317363 | 69317457 | E069 | -17528 |
| chr12 | 69331118 | 69331186 | E069 | -3799 |
| chr12 | 69345410 | 69345914 | E069 | 10425 |
| chr12 | 69353066 | 69353206 | E069 | 18081 |
| chr12 | 69353262 | 69353357 | E069 | 18277 |
| chr12 | 69353386 | 69354239 | E069 | 18401 |
| chr12 | 69354307 | 69354439 | E069 | 19322 |
| chr12 | 69367986 | 69368080 | E069 | 33001 |
| chr12 | 69368125 | 69368196 | E069 | 33140 |
| chr12 | 69369412 | 69369561 | E069 | 34427 |
| chr12 | 69369714 | 69369784 | E069 | 34729 |
| chr12 | 69369791 | 69369958 | E069 | 34806 |
| chr12 | 69370180 | 69370234 | E069 | 35195 |
| chr12 | 69370291 | 69370645 | E069 | 35306 |
| chr12 | 69370683 | 69370959 | E069 | 35698 |
| chr12 | 69371196 | 69372472 | E069 | 36211 |
| chr12 | 69372554 | 69372799 | E069 | 37569 |
| chr12 | 69285188 | 69285319 | E071 | -49666 |
| chr12 | 69292714 | 69292847 | E071 | -42138 |
| chr12 | 69292874 | 69292988 | E071 | -41997 |
| chr12 | 69293000 | 69293528 | E071 | -41457 |
| chr12 | 69293706 | 69293785 | E071 | -41200 |
| chr12 | 69296911 | 69297014 | E071 | -37971 |
| chr12 | 69297034 | 69297097 | E071 | -37888 |
| chr12 | 69297176 | 69297259 | E071 | -37726 |
| chr12 | 69297322 | 69297549 | E071 | -37436 |
| chr12 | 69297604 | 69297644 | E071 | -37341 |
| chr12 | 69297963 | 69298051 | E071 | -36934 |
| chr12 | 69298062 | 69298145 | E071 | -36840 |
| chr12 | 69307606 | 69307678 | E071 | -27307 |
| chr12 | 69307722 | 69307821 | E071 | -27164 |
| chr12 | 69307851 | 69308034 | E071 | -26951 |
| chr12 | 69308835 | 69309316 | E071 | -25669 |
| chr12 | 69309327 | 69309404 | E071 | -25581 |
| chr12 | 69316828 | 69316939 | E071 | -18046 |
| chr12 | 69317059 | 69317271 | E071 | -17714 |
| chr12 | 69331118 | 69331186 | E071 | -3799 |
| chr12 | 69331620 | 69331762 | E071 | -3223 |
| chr12 | 69345410 | 69345914 | E071 | 10425 |
| chr12 | 69353386 | 69354239 | E071 | 18401 |
| chr12 | 69369412 | 69369561 | E071 | 34427 |
| chr12 | 69369714 | 69369784 | E071 | 34729 |
| chr12 | 69369791 | 69369958 | E071 | 34806 |
| chr12 | 69370180 | 69370234 | E071 | 35195 |
| chr12 | 69370291 | 69370645 | E071 | 35306 |
| chr12 | 69370683 | 69370959 | E071 | 35698 |
| chr12 | 69370982 | 69371064 | E071 | 35997 |
| chr12 | 69371196 | 69372472 | E071 | 36211 |
| chr12 | 69372554 | 69372799 | E071 | 37569 |
| chr12 | 69373918 | 69373958 | E071 | 38933 |
| chr12 | 69374002 | 69374059 | E071 | 39017 |
| chr12 | 69374192 | 69374297 | E071 | 39207 |
| chr12 | 69285188 | 69285319 | E072 | -49666 |
| chr12 | 69285376 | 69285420 | E072 | -49565 |
| chr12 | 69292874 | 69292988 | E072 | -41997 |
| chr12 | 69293000 | 69293528 | E072 | -41457 |
| chr12 | 69296911 | 69297014 | E072 | -37971 |
| chr12 | 69297034 | 69297097 | E072 | -37888 |
| chr12 | 69297176 | 69297259 | E072 | -37726 |
| chr12 | 69297322 | 69297549 | E072 | -37436 |
| chr12 | 69297604 | 69297644 | E072 | -37341 |
| chr12 | 69297963 | 69298051 | E072 | -36934 |
| chr12 | 69298062 | 69298145 | E072 | -36840 |
| chr12 | 69307722 | 69307821 | E072 | -27164 |
| chr12 | 69307851 | 69308034 | E072 | -26951 |
| chr12 | 69308835 | 69309316 | E072 | -25669 |
| chr12 | 69309327 | 69309404 | E072 | -25581 |
| chr12 | 69316828 | 69316939 | E072 | -18046 |
| chr12 | 69317059 | 69317271 | E072 | -17714 |
| chr12 | 69317363 | 69317457 | E072 | -17528 |
| chr12 | 69345410 | 69345914 | E072 | 10425 |
| chr12 | 69353262 | 69353357 | E072 | 18277 |
| chr12 | 69353386 | 69354239 | E072 | 18401 |
| chr12 | 69369412 | 69369561 | E072 | 34427 |
| chr12 | 69369714 | 69369784 | E072 | 34729 |
| chr12 | 69369791 | 69369958 | E072 | 34806 |
| chr12 | 69370180 | 69370234 | E072 | 35195 |
| chr12 | 69370291 | 69370645 | E072 | 35306 |
| chr12 | 69370683 | 69370959 | E072 | 35698 |
| chr12 | 69370982 | 69371064 | E072 | 35997 |
| chr12 | 69371196 | 69372472 | E072 | 36211 |
| chr12 | 69372554 | 69372799 | E072 | 37569 |
| chr12 | 69375424 | 69375611 | E072 | 40439 |
| chr12 | 69285188 | 69285319 | E073 | -49666 |
| chr12 | 69285376 | 69285420 | E073 | -49565 |
| chr12 | 69285449 | 69285696 | E073 | -49289 |
| chr12 | 69345410 | 69345914 | E073 | 10425 |
| chr12 | 69371196 | 69372472 | E073 | 36211 |
| chr12 | 69372554 | 69372799 | E073 | 37569 |
| chr12 | 69285188 | 69285319 | E074 | -49666 |
| chr12 | 69285376 | 69285420 | E074 | -49565 |
| chr12 | 69285449 | 69285696 | E074 | -49289 |
| chr12 | 69292714 | 69292847 | E074 | -42138 |
| chr12 | 69292874 | 69292988 | E074 | -41997 |
| chr12 | 69293000 | 69293528 | E074 | -41457 |
| chr12 | 69308835 | 69309316 | E074 | -25669 |
| chr12 | 69309327 | 69309404 | E074 | -25581 |
| chr12 | 69316271 | 69316315 | E074 | -18670 |
| chr12 | 69316380 | 69316491 | E074 | -18494 |
| chr12 | 69316539 | 69316589 | E074 | -18396 |
| chr12 | 69316828 | 69316939 | E074 | -18046 |
| chr12 | 69317059 | 69317271 | E074 | -17714 |
| chr12 | 69317363 | 69317457 | E074 | -17528 |
| chr12 | 69331118 | 69331186 | E074 | -3799 |
| chr12 | 69345410 | 69345914 | E074 | 10425 |
| chr12 | 69353386 | 69354239 | E074 | 18401 |
| chr12 | 69354307 | 69354439 | E074 | 19322 |
| chr12 | 69369412 | 69369561 | E074 | 34427 |
| chr12 | 69369714 | 69369784 | E074 | 34729 |
| chr12 | 69369791 | 69369958 | E074 | 34806 |
| chr12 | 69370180 | 69370234 | E074 | 35195 |
| chr12 | 69370291 | 69370645 | E074 | 35306 |
| chr12 | 69370683 | 69370959 | E074 | 35698 |
| chr12 | 69370982 | 69371064 | E074 | 35997 |
| chr12 | 69371196 | 69372472 | E074 | 36211 |
| chr12 | 69372554 | 69372799 | E074 | 37569 |
| chr12 | 69316828 | 69316939 | E081 | -18046 |
| chr12 | 69317059 | 69317271 | E081 | -17714 |
| chr12 | 69352475 | 69352557 | E081 | 17490 |
| chr12 | 69352691 | 69352798 | E081 | 17706 |
| chr12 | 69353066 | 69353206 | E081 | 18081 |
| chr12 | 69353262 | 69353357 | E081 | 18277 |
| chr12 | 69353386 | 69354239 | E081 | 18401 |
| chr12 | 69353066 | 69353206 | E082 | 18081 |
| chr12 | 69353262 | 69353357 | E082 | 18277 |
| chr12 | 69353386 | 69354239 | E082 | 18401 |
| chr12 | 69354307 | 69354439 | E082 | 19322 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 69325823 | 69326021 | E067 | -8964 |
| chr12 | 69326069 | 69327591 | E067 | -7394 |
| chr12 | 69324135 | 69324213 | E068 | -10772 |
| chr12 | 69324514 | 69324663 | E068 | -10322 |
| chr12 | 69325092 | 69325142 | E068 | -9843 |
| chr12 | 69325823 | 69326021 | E068 | -8964 |
| chr12 | 69326069 | 69327591 | E068 | -7394 |
| chr12 | 69327594 | 69327812 | E068 | -7173 |
| chr12 | 69324135 | 69324213 | E069 | -10772 |
| chr12 | 69324249 | 69324300 | E069 | -10685 |
| chr12 | 69324307 | 69324364 | E069 | -10621 |
| chr12 | 69324514 | 69324663 | E069 | -10322 |
| chr12 | 69325092 | 69325142 | E069 | -9843 |
| chr12 | 69325823 | 69326021 | E069 | -8964 |
| chr12 | 69326069 | 69327591 | E069 | -7394 |
| chr12 | 69327594 | 69327812 | E069 | -7173 |
| chr12 | 69325823 | 69326021 | E071 | -8964 |
| chr12 | 69326069 | 69327591 | E071 | -7394 |
| chr12 | 69327594 | 69327812 | E071 | -7173 |
| chr12 | 69325823 | 69326021 | E072 | -8964 |
| chr12 | 69326069 | 69327591 | E072 | -7394 |
| chr12 | 69327594 | 69327812 | E072 | -7173 |
| chr12 | 69325823 | 69326021 | E073 | -8964 |
| chr12 | 69326069 | 69327591 | E073 | -7394 |
| chr12 | 69327594 | 69327812 | E073 | -7173 |
| chr12 | 69324135 | 69324213 | E074 | -10772 |
| chr12 | 69324249 | 69324300 | E074 | -10685 |
| chr12 | 69324307 | 69324364 | E074 | -10621 |
| chr12 | 69324514 | 69324663 | E074 | -10322 |
| chr12 | 69325823 | 69326021 | E074 | -8964 |
| chr12 | 69326069 | 69327591 | E074 | -7394 |
| chr12 | 69327594 | 69327812 | E074 | -7173 |
| chr12 | 69326069 | 69327591 | E082 | -7394 |
| chr12 | 69327594 | 69327812 | E082 | -7173 |