Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 2 | NC_000002.12:g.230723394G>T |
GRCh37.p13 chr 2 | NC_000002.11:g.231588109G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CAB39 transcript variant 2 | NM_001130849.1:c. | N/A | Intron Variant |
CAB39 transcript variant 3 | NM_001130850.1:c. | N/A | Intron Variant |
CAB39 transcript variant 1 | NM_016289.3:c. | N/A | Intron Variant |
CAB39 transcript variant X1 | XM_011511350.2:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.365 | T=0.635 |
1000Genomes | American | Sub | 694 | G=0.890 | T=0.110 |
1000Genomes | East Asian | Sub | 1008 | G=0.933 | T=0.067 |
1000Genomes | Europe | Sub | 1006 | G=0.920 | T=0.080 |
1000Genomes | Global | Study-wide | 5008 | G=0.775 | T=0.225 |
1000Genomes | South Asian | Sub | 978 | G=0.930 | T=0.070 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.926 | T=0.074 |
The Genome Aggregation Database | African | Sub | 8664 | G=0.449 | T=0.551 |
The Genome Aggregation Database | American | Sub | 836 | G=0.920 | T=0.080 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=0.975 | T=0.025 |
The Genome Aggregation Database | Europe | Sub | 18342 | G=0.923 | T=0.076 |
The Genome Aggregation Database | Global | Study-wide | 29762 | G=0.787 | T=0.212 |
The Genome Aggregation Database | Other | Sub | 300 | G=0.880 | T=0.120 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.702 | T=0.297 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.915 | T=0.085 |
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 |
---|---|---|---|
rs13404879 | 0.00095 | 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 ) |
---|---|---|---|---|
chr2 | 231580545 | 231580595 | E067 | -7514 |
chr2 | 231582211 | 231582261 | E067 | -5848 |
chr2 | 231582286 | 231582469 | E067 | -5640 |
chr2 | 231582481 | 231582658 | E067 | -5451 |
chr2 | 231582802 | 231583082 | E067 | -5027 |
chr2 | 231584571 | 231584661 | E067 | -3448 |
chr2 | 231584774 | 231584855 | E067 | -3254 |
chr2 | 231602916 | 231603530 | E067 | 14807 |
chr2 | 231623947 | 231624121 | E067 | 35838 |
chr2 | 231580545 | 231580595 | E068 | -7514 |
chr2 | 231582211 | 231582261 | E068 | -5848 |
chr2 | 231582286 | 231582469 | E068 | -5640 |
chr2 | 231582481 | 231582658 | E068 | -5451 |
chr2 | 231600670 | 231600765 | E068 | 12561 |
chr2 | 231602195 | 231602249 | E068 | 14086 |
chr2 | 231602514 | 231602906 | E068 | 14405 |
chr2 | 231602916 | 231603530 | E068 | 14807 |
chr2 | 231615732 | 231616286 | E068 | 27623 |
chr2 | 231623947 | 231624121 | E068 | 35838 |
chr2 | 231624214 | 231624407 | E068 | 36105 |
chr2 | 231555331 | 231555518 | E069 | -32591 |
chr2 | 231580545 | 231580595 | E069 | -7514 |
chr2 | 231582286 | 231582469 | E069 | -5640 |
chr2 | 231582481 | 231582658 | E069 | -5451 |
chr2 | 231582802 | 231583082 | E069 | -5027 |
chr2 | 231602916 | 231603530 | E069 | 14807 |
chr2 | 231615732 | 231616286 | E069 | 27623 |
chr2 | 231623345 | 231623504 | E069 | 35236 |
chr2 | 231623512 | 231623891 | E069 | 35403 |
chr2 | 231623947 | 231624121 | E069 | 35838 |
chr2 | 231624214 | 231624407 | E069 | 36105 |
chr2 | 231580545 | 231580595 | E070 | -7514 |
chr2 | 231623947 | 231624121 | E070 | 35838 |
chr2 | 231580805 | 231580875 | E071 | -7234 |
chr2 | 231582211 | 231582261 | E071 | -5848 |
chr2 | 231582286 | 231582469 | E071 | -5640 |
chr2 | 231582481 | 231582658 | E071 | -5451 |
chr2 | 231582802 | 231583082 | E071 | -5027 |
chr2 | 231602916 | 231603530 | E071 | 14807 |
chr2 | 231615732 | 231616286 | E071 | 27623 |
chr2 | 231616417 | 231616469 | E071 | 28308 |
chr2 | 231621875 | 231621956 | E071 | 33766 |
chr2 | 231622073 | 231622215 | E071 | 33964 |
chr2 | 231622270 | 231622438 | E071 | 34161 |
chr2 | 231629960 | 231630061 | E071 | 41851 |
chr2 | 231580545 | 231580595 | E072 | -7514 |
chr2 | 231580805 | 231580875 | E072 | -7234 |
chr2 | 231582286 | 231582469 | E072 | -5640 |
chr2 | 231582481 | 231582658 | E072 | -5451 |
chr2 | 231582802 | 231583082 | E072 | -5027 |
chr2 | 231602916 | 231603530 | E072 | 14807 |
chr2 | 231615732 | 231616286 | E072 | 27623 |
chr2 | 231620627 | 231621187 | E072 | 32518 |
chr2 | 231623512 | 231623891 | E072 | 35403 |
chr2 | 231623947 | 231624121 | E072 | 35838 |
chr2 | 231630275 | 231630623 | E072 | 42166 |
chr2 | 231555760 | 231556208 | E073 | -31901 |
chr2 | 231580545 | 231580595 | E073 | -7514 |
chr2 | 231582211 | 231582261 | E073 | -5848 |
chr2 | 231582286 | 231582469 | E073 | -5640 |
chr2 | 231582481 | 231582658 | E073 | -5451 |
chr2 | 231617518 | 231617727 | E073 | 29409 |
chr2 | 231623345 | 231623504 | E073 | 35236 |
chr2 | 231623512 | 231623891 | E073 | 35403 |
chr2 | 231623947 | 231624121 | E073 | 35838 |
chr2 | 231624214 | 231624407 | E073 | 36105 |
chr2 | 231580545 | 231580595 | E074 | -7514 |
chr2 | 231582286 | 231582469 | E074 | -5640 |
chr2 | 231582481 | 231582658 | E074 | -5451 |
chr2 | 231582802 | 231583082 | E074 | -5027 |
chr2 | 231584571 | 231584661 | E074 | -3448 |
chr2 | 231584774 | 231584855 | E074 | -3254 |
chr2 | 231602514 | 231602906 | E074 | 14405 |
chr2 | 231602916 | 231603530 | E074 | 14807 |
chr2 | 231615732 | 231616286 | E074 | 27623 |
chr2 | 231623345 | 231623504 | E074 | 35236 |
chr2 | 231623512 | 231623891 | E074 | 35403 |
chr2 | 231623947 | 231624121 | E074 | 35838 |
chr2 | 231555331 | 231555518 | E081 | -32591 |
chr2 | 231580545 | 231580595 | E081 | -7514 |
chr2 | 231555331 | 231555518 | E082 | -32591 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr2 | 231576818 | 231579281 | E067 | -8828 |
chr2 | 231576818 | 231579281 | E068 | -8828 |
chr2 | 231576818 | 231579281 | E069 | -8828 |
chr2 | 231576818 | 231579281 | E070 | -8828 |
chr2 | 231576818 | 231579281 | E071 | -8828 |
chr2 | 231576818 | 231579281 | E072 | -8828 |
chr2 | 231576818 | 231579281 | E073 | -8828 |
chr2 | 231576818 | 231579281 | E074 | -8828 |
chr2 | 231576818 | 231579281 | E081 | -8828 |
chr2 | 231576818 | 231579281 | E082 | -8828 |