Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 14 | NC_000014.9:g.57208467C>G |
GRCh38.p7 chr 14 | NC_000014.9:g.57208467C>T |
GRCh37.p13 chr 14 | NC_000014.8:g.57675185C>G |
GRCh37.p13 chr 14 | NC_000014.8:g.57675185C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
EXOC5 transcript | NM_006544.3:c. | N/A | 3 Prime UTR Variant |
EXOC5 transcript variant X1 | XM_005267272.3:c. | N/A | 3 Prime UTR Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.156 | T=0.828 |
1000Genomes | American | Sub | 694 | C=0.860 | T=0.12, |
1000Genomes | East Asian | Sub | 1008 | C=0.876 | T=0.114 |
1000Genomes | Europe | Sub | 1006 | C=0.875 | T=0.118 |
1000Genomes | Global | Study-wide | 5008 | C=0.685 | T=0.305 |
1000Genomes | South Asian | Sub | 978 | C=0.880 | T=0.12, |
The Genome Aggregation Database | African | Sub | 8700 | C=0.280 | T=0.720 |
The Genome Aggregation Database | American | Sub | 838 | C=0.890 | T=0.110 |
The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.856 | T=0.144 |
The Genome Aggregation Database | Europe | Sub | 18472 | C=0.873 | T=0.126 |
The Genome Aggregation Database | Global | Study-wide | 29928 | C=0.700 | T=0.300 |
The Genome Aggregation Database | Other | Sub | 302 | C=0.850 | T=0.150 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.601 | T=0.398 |
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 |
---|---|---|---|
rs10150771 | 3.5E-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.