Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 5 | NC_000005.10:g.120447866G>A |
GRCh37.p13 chr 5 | NC_000005.9:g.119783561G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
LOC105379145 transcript variant X2 | XR_001742861.1:n. | N/A | Intron Variant |
LOC105379145 transcript variant X1 | XR_948708.2:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.860 | A=0.140 |
1000Genomes | American | Sub | 694 | G=0.940 | A=0.060 |
1000Genomes | East Asian | Sub | 1008 | G=0.980 | A=0.020 |
1000Genomes | Europe | Sub | 1006 | G=0.918 | A=0.082 |
1000Genomes | Global | Study-wide | 5008 | G=0.922 | A=0.078 |
1000Genomes | South Asian | Sub | 978 | G=0.940 | A=0.060 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.922 | A=0.078 |
The Genome Aggregation Database | African | Sub | 8726 | G=0.881 | A=0.119 |
The Genome Aggregation Database | American | Sub | 838 | G=0.950 | A=0.050 |
The Genome Aggregation Database | East Asian | Sub | 1618 | G=0.972 | A=0.028 |
The Genome Aggregation Database | Europe | Sub | 18484 | G=0.921 | A=0.078 |
The Genome Aggregation Database | Global | Study-wide | 29968 | G=0.912 | A=0.087 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.920 | A=0.080 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.911 | A=0.088 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.913 | A=0.087 |
PMID | Title | Author | Journal |
---|---|---|---|
23743675 | A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. | Kapoor M | Hum Genet |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs10477601 | 6.31E-05 | alcohol consumption | 23743675 |
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 ) |
---|---|---|---|---|
chr5 | 119798828 | 119799389 | E068 | 15267 |
chr5 | 119798828 | 119799389 | E069 | 15267 |
chr5 | 119798828 | 119799389 | E071 | 15267 |
chr5 | 119798828 | 119799389 | E074 | 15267 |
chr5 | 119798828 | 119799389 | E081 | 15267 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr5 | 119799407 | 119799500 | E067 | 15846 |
chr5 | 119799507 | 119801934 | E067 | 15946 |
chr5 | 119802039 | 119802178 | E067 | 18478 |
chr5 | 119802184 | 119802382 | E067 | 18623 |
chr5 | 119799407 | 119799500 | E068 | 15846 |
chr5 | 119799507 | 119801934 | E068 | 15946 |
chr5 | 119802039 | 119802178 | E068 | 18478 |
chr5 | 119802184 | 119802382 | E068 | 18623 |
chr5 | 119793604 | 119794213 | E069 | 10043 |
chr5 | 119799507 | 119801934 | E069 | 15946 |
chr5 | 119799407 | 119799500 | E070 | 15846 |
chr5 | 119799507 | 119801934 | E070 | 15946 |
chr5 | 119793604 | 119794213 | E071 | 10043 |
chr5 | 119799407 | 119799500 | E071 | 15846 |
chr5 | 119799507 | 119801934 | E071 | 15946 |
chr5 | 119799507 | 119801934 | E072 | 15946 |
chr5 | 119802039 | 119802178 | E072 | 18478 |
chr5 | 119802184 | 119802382 | E072 | 18623 |
chr5 | 119799507 | 119801934 | E073 | 15946 |
chr5 | 119802039 | 119802178 | E073 | 18478 |
chr5 | 119802184 | 119802382 | E073 | 18623 |
chr5 | 119799407 | 119799500 | E074 | 15846 |
chr5 | 119799507 | 119801934 | E074 | 15946 |
chr5 | 119799407 | 119799500 | E081 | 15846 |
chr5 | 119799507 | 119801934 | E081 | 15946 |
chr5 | 119799407 | 119799500 | E082 | 15846 |
chr5 | 119799507 | 119801934 | E082 | 15946 |
chr5 | 119802039 | 119802178 | E082 | 18478 |
chr5 | 119802184 | 119802382 | E082 | 18623 |