Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 4 | NC_000004.12:g.99346082C>A |
GRCh37.p13 chr 4 | NC_000004.11:g.100267239C>A |
ADH1C RefSeqGene | NG_011718.1:g.11679G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
ADH1C transcript variant 1 | NM_000669.4:c. | N/A | Intron Variant |
ADH1C transcript variant 2 | NR_133005.1:n. | N/A | Intron Variant |
ADH1C transcript variant X1 | XM_011531588.2:c. | N/A | Intron Variant |
ADH1C transcript variant X2 | XM_011531589.1:c. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.900 | A=0.100 |
1000Genomes | American | Sub | 694 | C=0.730 | A=0.270 |
1000Genomes | East Asian | Sub | 1008 | C=0.924 | A=0.076 |
1000Genomes | Europe | Sub | 1006 | C=0.595 | A=0.405 |
1000Genomes | Global | Study-wide | 5008 | C=0.786 | A=0.214 |
1000Genomes | South Asian | Sub | 978 | C=0.720 | A=0.280 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.602 | A=0.398 |
The Genome Aggregation Database | African | Sub | 8702 | C=0.854 | A=0.146 |
The Genome Aggregation Database | American | Sub | 832 | C=0.680 | A=0.320 |
The Genome Aggregation Database | East Asian | Sub | 1622 | C=0.913 | A=0.087 |
The Genome Aggregation Database | Europe | Sub | 18400 | C=0.553 | A=0.446 |
The Genome Aggregation Database | Global | Study-wide | 29856 | C=0.666 | A=0.333 |
The Genome Aggregation Database | Other | Sub | 300 | C=0.750 | A=0.250 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.738 | A=0.261 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.590 | A=0.410 |
PMID | Title | Author | Journal |
---|---|---|---|
24166409 | Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. | Gelernter J | Mol Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1662051 | 2E-06 | alcohol dependence | 24166409 |
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 ) |
---|---|---|---|---|
chr4 | 100245602 | 100245886 | E068 | -21353 |
chr4 | 100221669 | 100221897 | E070 | -45342 |
chr4 | 100244954 | 100245162 | E073 | -22077 |
chr4 | 100245344 | 100245493 | E073 | -21746 |
chr4 | 100221669 | 100221897 | E082 | -45342 |
chr4 | 100222048 | 100222444 | E082 | -44795 |