| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 12 | NC_000012.12:g.68947245A>G |
| GRCh37.p13 chr 12 | NC_000012.11:g.69341025A>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=0.761 | G=0.239 |
| 1000Genomes | American | Sub | 694 | A=0.620 | G=0.380 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.661 | G=0.339 |
| 1000Genomes | Europe | Sub | 1006 | A=0.655 | G=0.345 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.655 | G=0.345 |
| 1000Genomes | South Asian | Sub | 978 | A=0.530 | G=0.470 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.661 | G=0.339 |
| The Genome Aggregation Database | African | Sub | 8716 | A=0.721 | G=0.279 |
| The Genome Aggregation Database | American | Sub | 838 | A=0.630 | G=0.370 |
| The Genome Aggregation Database | East Asian | Sub | 1604 | A=0.631 | G=0.369 |
| The Genome Aggregation Database | Europe | Sub | 18464 | A=0.666 | G=0.333 |
| The Genome Aggregation Database | Global | Study-wide | 29924 | A=0.678 | G=0.321 |
| The Genome Aggregation Database | Other | Sub | 302 | A=0.570 | G=0.430 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | A=0.682 | G=0.317 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.658 | G=0.342 |
| 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 |
|---|---|---|---|
| rs1195812 | 0.00053 | 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 | 69297034 | 69297097 | E067 | -43928 |
| chr12 | 69297604 | 69297644 | E067 | -43381 |
| chr12 | 69297963 | 69298051 | E067 | -42974 |
| chr12 | 69298062 | 69298145 | E067 | -42880 |
| chr12 | 69345410 | 69345914 | E067 | 4385 |
| chr12 | 69353386 | 69354239 | E067 | 12361 |
| chr12 | 69354307 | 69354439 | E067 | 13282 |
| chr12 | 69368125 | 69368196 | E067 | 27100 |
| chr12 | 69369714 | 69369784 | E067 | 28689 |
| chr12 | 69369791 | 69369958 | E067 | 28766 |
| chr12 | 69370180 | 69370234 | E067 | 29155 |
| chr12 | 69370291 | 69370645 | E067 | 29266 |
| chr12 | 69370683 | 69370959 | E067 | 29658 |
| chr12 | 69370982 | 69371064 | E067 | 29957 |
| chr12 | 69371196 | 69372472 | E067 | 30171 |
| chr12 | 69372554 | 69372799 | E067 | 31529 |
| chr12 | 69292187 | 69292246 | E068 | -48779 |
| chr12 | 69292494 | 69292544 | E068 | -48481 |
| chr12 | 69292714 | 69292847 | E068 | -48178 |
| chr12 | 69292874 | 69292988 | E068 | -48037 |
| chr12 | 69293000 | 69293528 | E068 | -47497 |
| chr12 | 69316271 | 69316315 | E068 | -24710 |
| chr12 | 69316380 | 69316491 | E068 | -24534 |
| chr12 | 69316539 | 69316589 | E068 | -24436 |
| chr12 | 69316828 | 69316939 | E068 | -24086 |
| chr12 | 69317059 | 69317271 | E068 | -23754 |
| chr12 | 69317363 | 69317457 | E068 | -23568 |
| chr12 | 69331118 | 69331186 | E068 | -9839 |
| chr12 | 69331620 | 69331762 | E068 | -9263 |
| chr12 | 69331847 | 69331897 | E068 | -9128 |
| chr12 | 69367986 | 69368080 | E068 | 26961 |
| chr12 | 69368125 | 69368196 | E068 | 27100 |
| chr12 | 69369791 | 69369958 | E068 | 28766 |
| chr12 | 69370180 | 69370234 | E068 | 29155 |
| chr12 | 69370291 | 69370645 | E068 | 29266 |
| chr12 | 69370683 | 69370959 | E068 | 29658 |
| chr12 | 69370982 | 69371064 | E068 | 29957 |
| chr12 | 69371196 | 69372472 | E068 | 30171 |
| chr12 | 69372554 | 69372799 | E068 | 31529 |
| chr12 | 69293000 | 69293528 | E069 | -47497 |
| chr12 | 69308835 | 69309316 | E069 | -31709 |
| chr12 | 69309327 | 69309404 | E069 | -31621 |
| chr12 | 69316828 | 69316939 | E069 | -24086 |
| chr12 | 69317059 | 69317271 | E069 | -23754 |
| chr12 | 69317363 | 69317457 | E069 | -23568 |
| chr12 | 69331118 | 69331186 | E069 | -9839 |
| chr12 | 69345410 | 69345914 | E069 | 4385 |
| chr12 | 69353066 | 69353206 | E069 | 12041 |
| chr12 | 69353262 | 69353357 | E069 | 12237 |
| chr12 | 69353386 | 69354239 | E069 | 12361 |
| chr12 | 69354307 | 69354439 | E069 | 13282 |
| chr12 | 69367986 | 69368080 | E069 | 26961 |
| chr12 | 69368125 | 69368196 | E069 | 27100 |
| chr12 | 69369412 | 69369561 | E069 | 28387 |
| chr12 | 69369714 | 69369784 | E069 | 28689 |
| chr12 | 69369791 | 69369958 | E069 | 28766 |
| chr12 | 69370180 | 69370234 | E069 | 29155 |
| chr12 | 69370291 | 69370645 | E069 | 29266 |
| chr12 | 69370683 | 69370959 | E069 | 29658 |
| chr12 | 69371196 | 69372472 | E069 | 30171 |
| chr12 | 69372554 | 69372799 | E069 | 31529 |
| chr12 | 69292714 | 69292847 | E071 | -48178 |
| chr12 | 69292874 | 69292988 | E071 | -48037 |
| chr12 | 69293000 | 69293528 | E071 | -47497 |
| chr12 | 69293706 | 69293785 | E071 | -47240 |
| chr12 | 69296911 | 69297014 | E071 | -44011 |
| chr12 | 69297034 | 69297097 | E071 | -43928 |
| chr12 | 69297176 | 69297259 | E071 | -43766 |
| chr12 | 69297322 | 69297549 | E071 | -43476 |
| chr12 | 69297604 | 69297644 | E071 | -43381 |
| chr12 | 69297963 | 69298051 | E071 | -42974 |
| chr12 | 69298062 | 69298145 | E071 | -42880 |
| chr12 | 69307606 | 69307678 | E071 | -33347 |
| chr12 | 69307722 | 69307821 | E071 | -33204 |
| chr12 | 69307851 | 69308034 | E071 | -32991 |
| chr12 | 69308835 | 69309316 | E071 | -31709 |
| chr12 | 69309327 | 69309404 | E071 | -31621 |
| chr12 | 69316828 | 69316939 | E071 | -24086 |
| chr12 | 69317059 | 69317271 | E071 | -23754 |
| chr12 | 69331118 | 69331186 | E071 | -9839 |
| chr12 | 69331620 | 69331762 | E071 | -9263 |
| chr12 | 69345410 | 69345914 | E071 | 4385 |
| chr12 | 69353386 | 69354239 | E071 | 12361 |
| chr12 | 69369412 | 69369561 | E071 | 28387 |
| chr12 | 69369714 | 69369784 | E071 | 28689 |
| chr12 | 69369791 | 69369958 | E071 | 28766 |
| chr12 | 69370180 | 69370234 | E071 | 29155 |
| chr12 | 69370291 | 69370645 | E071 | 29266 |
| chr12 | 69370683 | 69370959 | E071 | 29658 |
| chr12 | 69370982 | 69371064 | E071 | 29957 |
| chr12 | 69371196 | 69372472 | E071 | 30171 |
| chr12 | 69372554 | 69372799 | E071 | 31529 |
| chr12 | 69373918 | 69373958 | E071 | 32893 |
| chr12 | 69374002 | 69374059 | E071 | 32977 |
| chr12 | 69374192 | 69374297 | E071 | 33167 |
| chr12 | 69292874 | 69292988 | E072 | -48037 |
| chr12 | 69293000 | 69293528 | E072 | -47497 |
| chr12 | 69296911 | 69297014 | E072 | -44011 |
| chr12 | 69297034 | 69297097 | E072 | -43928 |
| chr12 | 69297176 | 69297259 | E072 | -43766 |
| chr12 | 69297322 | 69297549 | E072 | -43476 |
| chr12 | 69297604 | 69297644 | E072 | -43381 |
| chr12 | 69297963 | 69298051 | E072 | -42974 |
| chr12 | 69298062 | 69298145 | E072 | -42880 |
| chr12 | 69307722 | 69307821 | E072 | -33204 |
| chr12 | 69307851 | 69308034 | E072 | -32991 |
| chr12 | 69308835 | 69309316 | E072 | -31709 |
| chr12 | 69309327 | 69309404 | E072 | -31621 |
| chr12 | 69316828 | 69316939 | E072 | -24086 |
| chr12 | 69317059 | 69317271 | E072 | -23754 |
| chr12 | 69317363 | 69317457 | E072 | -23568 |
| chr12 | 69345410 | 69345914 | E072 | 4385 |
| chr12 | 69353262 | 69353357 | E072 | 12237 |
| chr12 | 69353386 | 69354239 | E072 | 12361 |
| chr12 | 69369412 | 69369561 | E072 | 28387 |
| chr12 | 69369714 | 69369784 | E072 | 28689 |
| chr12 | 69369791 | 69369958 | E072 | 28766 |
| chr12 | 69370180 | 69370234 | E072 | 29155 |
| chr12 | 69370291 | 69370645 | E072 | 29266 |
| chr12 | 69370683 | 69370959 | E072 | 29658 |
| chr12 | 69370982 | 69371064 | E072 | 29957 |
| chr12 | 69371196 | 69372472 | E072 | 30171 |
| chr12 | 69372554 | 69372799 | E072 | 31529 |
| chr12 | 69375424 | 69375611 | E072 | 34399 |
| chr12 | 69345410 | 69345914 | E073 | 4385 |
| chr12 | 69371196 | 69372472 | E073 | 30171 |
| chr12 | 69372554 | 69372799 | E073 | 31529 |
| chr12 | 69292714 | 69292847 | E074 | -48178 |
| chr12 | 69292874 | 69292988 | E074 | -48037 |
| chr12 | 69293000 | 69293528 | E074 | -47497 |
| chr12 | 69308835 | 69309316 | E074 | -31709 |
| chr12 | 69309327 | 69309404 | E074 | -31621 |
| chr12 | 69316271 | 69316315 | E074 | -24710 |
| chr12 | 69316380 | 69316491 | E074 | -24534 |
| chr12 | 69316539 | 69316589 | E074 | -24436 |
| chr12 | 69316828 | 69316939 | E074 | -24086 |
| chr12 | 69317059 | 69317271 | E074 | -23754 |
| chr12 | 69317363 | 69317457 | E074 | -23568 |
| chr12 | 69331118 | 69331186 | E074 | -9839 |
| chr12 | 69345410 | 69345914 | E074 | 4385 |
| chr12 | 69353386 | 69354239 | E074 | 12361 |
| chr12 | 69354307 | 69354439 | E074 | 13282 |
| chr12 | 69369412 | 69369561 | E074 | 28387 |
| chr12 | 69369714 | 69369784 | E074 | 28689 |
| chr12 | 69369791 | 69369958 | E074 | 28766 |
| chr12 | 69370180 | 69370234 | E074 | 29155 |
| chr12 | 69370291 | 69370645 | E074 | 29266 |
| chr12 | 69370683 | 69370959 | E074 | 29658 |
| chr12 | 69370982 | 69371064 | E074 | 29957 |
| chr12 | 69371196 | 69372472 | E074 | 30171 |
| chr12 | 69372554 | 69372799 | E074 | 31529 |
| chr12 | 69316828 | 69316939 | E081 | -24086 |
| chr12 | 69317059 | 69317271 | E081 | -23754 |
| chr12 | 69352475 | 69352557 | E081 | 11450 |
| chr12 | 69352691 | 69352798 | E081 | 11666 |
| chr12 | 69353066 | 69353206 | E081 | 12041 |
| chr12 | 69353262 | 69353357 | E081 | 12237 |
| chr12 | 69353386 | 69354239 | E081 | 12361 |
| chr12 | 69353066 | 69353206 | E082 | 12041 |
| chr12 | 69353262 | 69353357 | E082 | 12237 |
| chr12 | 69353386 | 69354239 | E082 | 12361 |
| chr12 | 69354307 | 69354439 | E082 | 13282 |
| Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
|---|---|---|---|---|
| chr12 | 69325823 | 69326021 | E067 | -15004 |
| chr12 | 69326069 | 69327591 | E067 | -13434 |
| chr12 | 69324135 | 69324213 | E068 | -16812 |
| chr12 | 69324514 | 69324663 | E068 | -16362 |
| chr12 | 69325092 | 69325142 | E068 | -15883 |
| chr12 | 69325823 | 69326021 | E068 | -15004 |
| chr12 | 69326069 | 69327591 | E068 | -13434 |
| chr12 | 69327594 | 69327812 | E068 | -13213 |
| chr12 | 69324135 | 69324213 | E069 | -16812 |
| chr12 | 69324249 | 69324300 | E069 | -16725 |
| chr12 | 69324307 | 69324364 | E069 | -16661 |
| chr12 | 69324514 | 69324663 | E069 | -16362 |
| chr12 | 69325092 | 69325142 | E069 | -15883 |
| chr12 | 69325823 | 69326021 | E069 | -15004 |
| chr12 | 69326069 | 69327591 | E069 | -13434 |
| chr12 | 69327594 | 69327812 | E069 | -13213 |
| chr12 | 69325823 | 69326021 | E071 | -15004 |
| chr12 | 69326069 | 69327591 | E071 | -13434 |
| chr12 | 69327594 | 69327812 | E071 | -13213 |
| chr12 | 69325823 | 69326021 | E072 | -15004 |
| chr12 | 69326069 | 69327591 | E072 | -13434 |
| chr12 | 69327594 | 69327812 | E072 | -13213 |
| chr12 | 69325823 | 69326021 | E073 | -15004 |
| chr12 | 69326069 | 69327591 | E073 | -13434 |
| chr12 | 69327594 | 69327812 | E073 | -13213 |
| chr12 | 69324135 | 69324213 | E074 | -16812 |
| chr12 | 69324249 | 69324300 | E074 | -16725 |
| chr12 | 69324307 | 69324364 | E074 | -16661 |
| chr12 | 69324514 | 69324663 | E074 | -16362 |
| chr12 | 69325823 | 69326021 | E074 | -15004 |
| chr12 | 69326069 | 69327591 | E074 | -13434 |
| chr12 | 69327594 | 69327812 | E074 | -13213 |
| chr12 | 69326069 | 69327591 | E082 | -13434 |
| chr12 | 69327594 | 69327812 | E082 | -13213 |