Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 5 | NC_000005.10:g.32561694C>T |
GRCh37.p13 chr 5 | NC_000005.9:g.32561800C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SUB1 transcript | NM_006713.3:c. | N/A | Genic Upstream Transcript Variant |
SUB1 transcript variant X1 | XM_017008986.1:c. | N/A | Intron Variant |
SUB1 transcript variant X2 | XM_017008987.1:c. | N/A | Intron Variant |
SUB1 transcript variant X3 | XM_011513944.2:c. | N/A | Genic Upstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | C=0.507 | T=0.493 |
1000Genomes | American | Sub | 694 | C=0.490 | T=0.510 |
1000Genomes | East Asian | Sub | 1008 | C=0.507 | T=0.493 |
1000Genomes | Europe | Sub | 1006 | C=0.498 | T=0.502 |
1000Genomes | Global | Study-wide | 5008 | C=0.488 | T=0.512 |
1000Genomes | South Asian | Sub | 978 | C=0.430 | T=0.570 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.486 | T=0.514 |
The Genome Aggregation Database | African | Sub | 8582 | C=0.534 | T=0.466 |
The Genome Aggregation Database | American | Sub | 824 | C=0.470 | T=0.530 |
The Genome Aggregation Database | East Asian | Sub | 1606 | C=0.531 | T=0.469 |
The Genome Aggregation Database | Europe | Sub | 17936 | C=0.472 | T=0.527 |
The Genome Aggregation Database | Global | Study-wide | 29246 | C=0.492 | T=0.507 |
The Genome Aggregation Database | Other | Sub | 298 | C=0.370 | T=0.630 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.505 | T=0.494 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.488 | T=0.512 |
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 |
---|---|---|---|
rs10941010 | 3.39E-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 | 32587776 | 32587845 | E067 | 25976 |
chr5 | 32588377 | 32588545 | E067 | 26577 |
chr5 | 32597256 | 32597395 | E067 | 35456 |
chr5 | 32597413 | 32597506 | E067 | 35613 |
chr5 | 32599805 | 32600010 | E067 | 38005 |
chr5 | 32600235 | 32600546 | E067 | 38435 |
chr5 | 32531241 | 32531472 | E068 | -30328 |
chr5 | 32588377 | 32588545 | E068 | 26577 |
chr5 | 32597413 | 32597506 | E068 | 35613 |
chr5 | 32587776 | 32587845 | E069 | 25976 |
chr5 | 32588377 | 32588545 | E069 | 26577 |
chr5 | 32589224 | 32589453 | E069 | 27424 |
chr5 | 32589490 | 32589530 | E069 | 27690 |
chr5 | 32589670 | 32589783 | E069 | 27870 |
chr5 | 32597413 | 32597506 | E069 | 35613 |
chr5 | 32597782 | 32597843 | E069 | 35982 |
chr5 | 32531241 | 32531472 | E070 | -30328 |
chr5 | 32538697 | 32538791 | E070 | -23009 |
chr5 | 32588664 | 32588711 | E070 | 26864 |
chr5 | 32588832 | 32588899 | E070 | 27032 |
chr5 | 32589115 | 32589165 | E070 | 27315 |
chr5 | 32589224 | 32589453 | E070 | 27424 |
chr5 | 32589490 | 32589530 | E070 | 27690 |
chr5 | 32589670 | 32589783 | E070 | 27870 |
chr5 | 32589850 | 32590027 | E070 | 28050 |
chr5 | 32587776 | 32587845 | E071 | 25976 |
chr5 | 32588377 | 32588545 | E071 | 26577 |
chr5 | 32600235 | 32600546 | E071 | 38435 |
chr5 | 32599545 | 32599757 | E072 | 37745 |
chr5 | 32599805 | 32600010 | E072 | 38005 |
chr5 | 32600235 | 32600546 | E072 | 38435 |
chr5 | 32531241 | 32531472 | E073 | -30328 |
chr5 | 32597256 | 32597395 | E073 | 35456 |
chr5 | 32600235 | 32600546 | E073 | 38435 |
chr5 | 32597413 | 32597506 | E074 | 35613 |
chr5 | 32599805 | 32600010 | E074 | 38005 |
chr5 | 32600235 | 32600546 | E074 | 38435 |
chr5 | 32531241 | 32531472 | E081 | -30328 |
chr5 | 32537366 | 32537544 | E081 | -24256 |
chr5 | 32587776 | 32587845 | E081 | 25976 |
chr5 | 32531241 | 32531472 | E082 | -30328 |
chr5 | 32545263 | 32545470 | E082 | -16330 |
chr5 | 32545594 | 32545663 | E082 | -16137 |
chr5 | 32587776 | 32587845 | E082 | 25976 |
chr5 | 32588377 | 32588545 | E082 | 26577 |
chr5 | 32588664 | 32588711 | E082 | 26864 |
chr5 | 32588832 | 32588899 | E082 | 27032 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr5 | 32585133 | 32586717 | E067 | 23333 |
chr5 | 32585133 | 32586717 | E068 | 23333 |
chr5 | 32585133 | 32586717 | E069 | 23333 |
chr5 | 32585133 | 32586717 | E070 | 23333 |
chr5 | 32585133 | 32586717 | E071 | 23333 |
chr5 | 32585133 | 32586717 | E072 | 23333 |
chr5 | 32585133 | 32586717 | E073 | 23333 |
chr5 | 32585133 | 32586717 | E074 | 23333 |
chr5 | 32585133 | 32586717 | E081 | 23333 |
chr5 | 32585133 | 32586717 | E082 | 23333 |