Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 6 | NC_000006.12:g.148874287G>A |
GRCh37.p13 chr 6 | NC_000006.11:g.149195423G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
UST transcript | NM_005715.2:c. | N/A | Intron Variant |
UST transcript variant X2 | XM_011535378.2:c. | N/A | Intron Variant |
UST transcript variant X3 | XM_017010152.1:c. | N/A | Intron Variant |
UST transcript variant X1 | XR_001743088.1:n. | N/A | Intron Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.762 | A=0.238 |
1000Genomes | American | Sub | 694 | G=0.870 | A=0.130 |
1000Genomes | East Asian | Sub | 1008 | G=0.992 | A=0.008 |
1000Genomes | Europe | Sub | 1006 | G=0.888 | A=0.112 |
1000Genomes | Global | Study-wide | 5008 | G=0.886 | A=0.114 |
1000Genomes | South Asian | Sub | 978 | G=0.950 | A=0.050 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.868 | A=0.132 |
The Genome Aggregation Database | African | Sub | 8728 | G=0.769 | A=0.231 |
The Genome Aggregation Database | American | Sub | 838 | G=0.890 | A=0.110 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=0.998 | A=0.002 |
The Genome Aggregation Database | Europe | Sub | 18482 | G=0.852 | A=0.147 |
The Genome Aggregation Database | Global | Study-wide | 29970 | G=0.838 | A=0.161 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.920 | A=0.080 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.828 | A=0.171 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.869 | A=0.131 |
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 |
---|---|---|---|
rs11965507 | 4.04E-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 ) |
---|---|---|---|---|
chr6 | 149195808 | 149196396 | E067 | 385 |
chr6 | 149209362 | 149209428 | E067 | 13939 |
chr6 | 149209652 | 149209778 | E067 | 14229 |
chr6 | 149168241 | 149168295 | E068 | -27128 |
chr6 | 149168341 | 149168524 | E068 | -26899 |
chr6 | 149168543 | 149168767 | E068 | -26656 |
chr6 | 149169094 | 149169162 | E068 | -26261 |
chr6 | 149169972 | 149170026 | E068 | -25397 |
chr6 | 149170135 | 149170347 | E068 | -25076 |
chr6 | 149206324 | 149208012 | E068 | 10901 |
chr6 | 149208118 | 149208162 | E068 | 12695 |
chr6 | 149208213 | 149208708 | E068 | 12790 |
chr6 | 149208876 | 149208970 | E068 | 13453 |
chr6 | 149209362 | 149209428 | E068 | 13939 |
chr6 | 149209652 | 149209778 | E068 | 14229 |
chr6 | 149209861 | 149210582 | E068 | 14438 |
chr6 | 149168543 | 149168767 | E069 | -26656 |
chr6 | 149169094 | 149169162 | E069 | -26261 |
chr6 | 149194710 | 149195020 | E070 | -403 |
chr6 | 149195066 | 149195265 | E070 | -158 |
chr6 | 149195366 | 149195424 | E070 | 0 |
chr6 | 149195808 | 149196396 | E070 | 385 |
chr6 | 149208118 | 149208162 | E070 | 12695 |
chr6 | 149209652 | 149209778 | E070 | 14229 |
chr6 | 149209861 | 149210582 | E070 | 14438 |
chr6 | 149228555 | 149228615 | E070 | 33132 |
chr6 | 149228816 | 149229011 | E070 | 33393 |
chr6 | 149208118 | 149208162 | E071 | 12695 |
chr6 | 149208213 | 149208708 | E071 | 12790 |
chr6 | 149208876 | 149208970 | E071 | 13453 |
chr6 | 149209861 | 149210582 | E071 | 14438 |
chr6 | 149210632 | 149210710 | E071 | 15209 |
chr6 | 149195808 | 149196396 | E072 | 385 |
chr6 | 149209652 | 149209778 | E072 | 14229 |
chr6 | 149209861 | 149210582 | E072 | 14438 |
chr6 | 149209861 | 149210582 | E073 | 14438 |
chr6 | 149168241 | 149168295 | E074 | -27128 |
chr6 | 149168341 | 149168524 | E074 | -26899 |
chr6 | 149168543 | 149168767 | E074 | -26656 |
chr6 | 149169094 | 149169162 | E074 | -26261 |
chr6 | 149169317 | 149169423 | E074 | -26000 |
chr6 | 149195066 | 149195265 | E074 | -158 |
chr6 | 149195808 | 149196396 | E074 | 385 |
chr6 | 149208213 | 149208708 | E074 | 12790 |
chr6 | 149208876 | 149208970 | E074 | 13453 |
chr6 | 149209362 | 149209428 | E074 | 13939 |
chr6 | 149209652 | 149209778 | E074 | 14229 |
chr6 | 149209861 | 149210582 | E074 | 14438 |
chr6 | 149210632 | 149210710 | E074 | 15209 |
chr6 | 149148140 | 149148317 | E081 | -47106 |
chr6 | 149148616 | 149149362 | E081 | -46061 |
chr6 | 149149615 | 149149777 | E081 | -45646 |
chr6 | 149150073 | 149150156 | E081 | -45267 |
chr6 | 149150325 | 149150460 | E081 | -44963 |
chr6 | 149156704 | 149156979 | E081 | -38444 |
chr6 | 149157032 | 149157850 | E081 | -37573 |
chr6 | 149172062 | 149172173 | E081 | -23250 |
chr6 | 149172642 | 149172762 | E081 | -22661 |
chr6 | 149172793 | 149173794 | E081 | -21629 |
chr6 | 149173868 | 149173948 | E081 | -21475 |
chr6 | 149195808 | 149196396 | E081 | 385 |
chr6 | 149206038 | 149206100 | E081 | 10615 |
chr6 | 149206191 | 149206287 | E081 | 10768 |
chr6 | 149208213 | 149208708 | E081 | 12790 |
chr6 | 149208876 | 149208970 | E081 | 13453 |
chr6 | 149209362 | 149209428 | E081 | 13939 |
chr6 | 149209652 | 149209778 | E081 | 14229 |
chr6 | 149209861 | 149210582 | E081 | 14438 |
chr6 | 149211349 | 149211483 | E081 | 15926 |
chr6 | 149211525 | 149212204 | E081 | 16102 |
chr6 | 149212215 | 149212330 | E081 | 16792 |
chr6 | 149212331 | 149212436 | E081 | 16908 |
chr6 | 149212449 | 149212631 | E081 | 17026 |
chr6 | 149226566 | 149226616 | E081 | 31143 |
chr6 | 149226771 | 149226879 | E081 | 31348 |
chr6 | 149227281 | 149227331 | E081 | 31858 |
chr6 | 149236951 | 149237258 | E081 | 41528 |
chr6 | 149237541 | 149237675 | E081 | 42118 |
chr6 | 149237964 | 149238203 | E081 | 42541 |
chr6 | 149172793 | 149173794 | E082 | -21629 |
chr6 | 149173868 | 149173948 | E082 | -21475 |
chr6 | 149206191 | 149206287 | E082 | 10768 |
chr6 | 149206324 | 149208012 | E082 | 10901 |
chr6 | 149209861 | 149210582 | E082 | 14438 |
chr6 | 149211349 | 149211483 | E082 | 15926 |
chr6 | 149211525 | 149212204 | E082 | 16102 |
chr6 | 149226075 | 149226444 | E082 | 30652 |
chr6 | 149226566 | 149226616 | E082 | 31143 |
chr6 | 149226771 | 149226879 | E082 | 31348 |
chr6 | 149227281 | 149227331 | E082 | 31858 |