Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 7 | NC_000007.14:g.107711672G>A |
GRCh37.p13 chr 7 | NC_000007.13:g.107352117G>A |
SLC26A4 RefSeqGene | NG_008489.1:g.56038G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
SLC26A4 transcript | NM_000441.1:c. | N/A | Intron Variant |
SLC26A4 transcript variant X1 | XM_005250425.2:c. | N/A | Intron Variant |
SLC26A4 transcript variant X2 | XM_017012318.1:c. | N/A | Intron Variant |
SLC26A4 transcript variant X3 | XM_006716025.3:c. | N/A | Genic Downstream Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.965 | A=0.035 |
1000Genomes | American | Sub | 694 | G=0.750 | A=0.250 |
1000Genomes | East Asian | Sub | 1008 | G=0.659 | A=0.341 |
1000Genomes | Europe | Sub | 1006 | G=0.769 | A=0.231 |
1000Genomes | Global | Study-wide | 5008 | G=0.754 | A=0.246 |
1000Genomes | South Asian | Sub | 978 | G=0.550 | A=0.450 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.791 | A=0.209 |
The Genome Aggregation Database | African | Sub | 8720 | G=0.937 | A=0.063 |
The Genome Aggregation Database | American | Sub | 838 | G=0.760 | A=0.240 |
The Genome Aggregation Database | East Asian | Sub | 1612 | G=0.641 | A=0.359 |
The Genome Aggregation Database | Europe | Sub | 18460 | G=0.769 | A=0.230 |
The Genome Aggregation Database | Global | Study-wide | 29932 | G=0.811 | A=0.189 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.780 | A=0.220 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.856 | A=0.144 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.777 | A=0.223 |
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 |
---|---|---|---|
rs2712207 | 1.93E-05 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr7:107352117 | AC002467.7 | ENSG00000241764.3 | G>A | 1.1747e-4 | -32764 | Cerebellum |
Chr7:107352117 | AC002467.7 | ENSG00000241764.3 | G>A | 2.1985e-5 | -32764 | Frontal_Cortex_BA9 |
Chr7:107352117 | AC002467.7 | ENSG00000241764.3 | G>A | 1.0521e-4 | -32764 | Cortex |
Chr7:107352117 | AC002467.7 | ENSG00000241764.3 | G>A | 4.1131e-5 | -32764 | Cerebellar_Hemisphere |
Chr7:107352117 | AC002467.7 | ENSG00000241764.3 | G>A | 4.3055e-3 | -32764 | Caudate_basal_ganglia |
Chr7:107352117 | AC002467.7 | ENSG00000241764.3 | G>A | 1.0776e-3 | -32764 | Nucleus_accumbens_basal_ganglia |
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 ) |
---|---|---|---|---|
chr7 | 107333486 | 107333578 | E067 | -18539 |
chr7 | 107333824 | 107334105 | E067 | -18012 |
chr7 | 107334175 | 107334517 | E067 | -17600 |
chr7 | 107334625 | 107335182 | E067 | -16935 |
chr7 | 107335233 | 107335327 | E067 | -16790 |
chr7 | 107383023 | 107383099 | E067 | 30906 |
chr7 | 107386669 | 107386772 | E067 | 34552 |
chr7 | 107387624 | 107387709 | E067 | 35507 |
chr7 | 107387798 | 107387880 | E067 | 35681 |
chr7 | 107333486 | 107333578 | E068 | -18539 |
chr7 | 107333824 | 107334105 | E068 | -18012 |
chr7 | 107334175 | 107334517 | E068 | -17600 |
chr7 | 107334625 | 107335182 | E068 | -16935 |
chr7 | 107335233 | 107335327 | E068 | -16790 |
chr7 | 107341168 | 107341256 | E068 | -10861 |
chr7 | 107341276 | 107341497 | E068 | -10620 |
chr7 | 107382753 | 107382818 | E068 | 30636 |
chr7 | 107386669 | 107386772 | E068 | 34552 |
chr7 | 107387624 | 107387709 | E068 | 35507 |
chr7 | 107387798 | 107387880 | E068 | 35681 |
chr7 | 107387932 | 107387978 | E068 | 35815 |
chr7 | 107388350 | 107388400 | E068 | 36233 |
chr7 | 107333486 | 107333578 | E069 | -18539 |
chr7 | 107333824 | 107334105 | E069 | -18012 |
chr7 | 107334175 | 107334517 | E069 | -17600 |
chr7 | 107334625 | 107335182 | E069 | -16935 |
chr7 | 107335233 | 107335327 | E069 | -16790 |
chr7 | 107335529 | 107335618 | E069 | -16499 |
chr7 | 107337294 | 107337374 | E069 | -14743 |
chr7 | 107337495 | 107337545 | E069 | -14572 |
chr7 | 107383023 | 107383099 | E069 | 30906 |
chr7 | 107386669 | 107386772 | E069 | 34552 |
chr7 | 107387624 | 107387709 | E069 | 35507 |
chr7 | 107387798 | 107387880 | E069 | 35681 |
chr7 | 107387932 | 107387978 | E069 | 35815 |
chr7 | 107332948 | 107333294 | E070 | -18823 |
chr7 | 107333486 | 107333578 | E070 | -18539 |
chr7 | 107333824 | 107334105 | E070 | -18012 |
chr7 | 107334175 | 107334517 | E070 | -17600 |
chr7 | 107334625 | 107335182 | E070 | -16935 |
chr7 | 107335233 | 107335327 | E070 | -16790 |
chr7 | 107335529 | 107335618 | E070 | -16499 |
chr7 | 107335644 | 107335829 | E070 | -16288 |
chr7 | 107337495 | 107337545 | E070 | -14572 |
chr7 | 107337639 | 107338679 | E070 | -13438 |
chr7 | 107383023 | 107383099 | E070 | 30906 |
chr7 | 107386669 | 107386772 | E070 | 34552 |
chr7 | 107387798 | 107387880 | E070 | 35681 |
chr7 | 107387932 | 107387978 | E070 | 35815 |
chr7 | 107388350 | 107388400 | E070 | 36233 |
chr7 | 107332129 | 107332230 | E071 | -19887 |
chr7 | 107332267 | 107332442 | E071 | -19675 |
chr7 | 107332948 | 107333294 | E071 | -18823 |
chr7 | 107333486 | 107333578 | E071 | -18539 |
chr7 | 107333824 | 107334105 | E071 | -18012 |
chr7 | 107335233 | 107335327 | E071 | -16790 |
chr7 | 107337495 | 107337545 | E071 | -14572 |
chr7 | 107337639 | 107338679 | E071 | -13438 |
chr7 | 107383023 | 107383099 | E071 | 30906 |
chr7 | 107333824 | 107334105 | E072 | -18012 |
chr7 | 107334175 | 107334517 | E072 | -17600 |
chr7 | 107334625 | 107335182 | E072 | -16935 |
chr7 | 107337639 | 107338679 | E072 | -13438 |
chr7 | 107383023 | 107383099 | E072 | 30906 |
chr7 | 107386669 | 107386772 | E072 | 34552 |
chr7 | 107333824 | 107334105 | E073 | -18012 |
chr7 | 107334175 | 107334517 | E073 | -17600 |
chr7 | 107334625 | 107335182 | E073 | -16935 |
chr7 | 107335233 | 107335327 | E073 | -16790 |
chr7 | 107337639 | 107338679 | E073 | -13438 |
chr7 | 107333486 | 107333578 | E074 | -18539 |
chr7 | 107333824 | 107334105 | E074 | -18012 |
chr7 | 107334175 | 107334517 | E074 | -17600 |
chr7 | 107335233 | 107335327 | E074 | -16790 |
chr7 | 107333824 | 107334105 | E081 | -18012 |
chr7 | 107337639 | 107338679 | E081 | -13438 |
chr7 | 107338996 | 107339076 | E081 | -13041 |
chr7 | 107334175 | 107334517 | E082 | -17600 |
chr7 | 107334625 | 107335182 | E082 | -16935 |
chr7 | 107337294 | 107337374 | E082 | -14743 |
chr7 | 107337495 | 107337545 | E082 | -14572 |
chr7 | 107337639 | 107338679 | E082 | -13438 |
chr7 | 107386669 | 107386772 | E082 | 34552 |
chr7 | 107387798 | 107387880 | E082 | 35681 |
chr7 | 107387932 | 107387978 | E082 | 35815 |
chr7 | 107388350 | 107388400 | E082 | 36233 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr7 | 107383118 | 107385525 | E067 | 31001 |
chr7 | 107383118 | 107385525 | E068 | 31001 |
chr7 | 107383118 | 107385525 | E069 | 31001 |
chr7 | 107383118 | 107385525 | E070 | 31001 |
chr7 | 107383118 | 107385525 | E071 | 31001 |
chr7 | 107383118 | 107385525 | E072 | 31001 |
chr7 | 107383118 | 107385525 | E073 | 31001 |
chr7 | 107383118 | 107385525 | E074 | 31001 |
chr7 | 107383118 | 107385525 | E081 | 31001 |
chr7 | 107383118 | 107385525 | E082 | 31001 |