Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 7 | NC_000007.14:g.107703317C>G |
GRCh37.p13 chr 7 | NC_000007.13:g.107343762C>G |
SLC26A4 RefSeqGene | NG_008489.1:g.47683C>G |
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 | C=0.982 | G=0.018 |
1000Genomes | American | Sub | 694 | C=0.750 | G=0.250 |
1000Genomes | East Asian | Sub | 1008 | C=0.655 | G=0.345 |
1000Genomes | Europe | Sub | 1006 | C=0.764 | G=0.236 |
1000Genomes | Global | Study-wide | 5008 | C=0.757 | G=0.243 |
1000Genomes | South Asian | Sub | 978 | C=0.550 | G=0.450 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.790 | G=0.210 |
The Genome Aggregation Database | African | Sub | 8712 | C=0.947 | G=0.053 |
The Genome Aggregation Database | American | Sub | 836 | C=0.760 | G=0.240 |
The Genome Aggregation Database | East Asian | Sub | 1616 | C=0.635 | G=0.365 |
The Genome Aggregation Database | Europe | Sub | 18454 | C=0.765 | G=0.234 |
The Genome Aggregation Database | Global | Study-wide | 29918 | C=0.811 | G=0.188 |
The Genome Aggregation Database | Other | Sub | 300 | C=0.790 | G=0.210 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | C=0.861 | G=0.138 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.777 | G=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 |
---|---|---|---|
rs2712208 | 1.32E-05 | alcohol consumption | 23743675 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
---|---|---|---|---|---|---|
Chr7:107343762 | AC002467.7 | ENSG00000241764.3 | C>G | 1.1747e-4 | -41119 | Cerebellum |
Chr7:107343762 | AC002467.7 | ENSG00000241764.3 | C>G | 2.1985e-5 | -41119 | Frontal_Cortex_BA9 |
Chr7:107343762 | AC002467.7 | ENSG00000241764.3 | C>G | 1.0521e-4 | -41119 | Cortex |
Chr7:107343762 | AC002467.7 | ENSG00000241764.3 | C>G | 4.1131e-5 | -41119 | Cerebellar_Hemisphere |
Chr7:107343762 | AC002467.7 | ENSG00000241764.3 | C>G | 4.3055e-3 | -41119 | Caudate_basal_ganglia |
Chr7:107343762 | AC002467.7 | ENSG00000241764.3 | C>G | 1.0776e-3 | -41119 | 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 | -10184 |
chr7 | 107333824 | 107334105 | E067 | -9657 |
chr7 | 107334175 | 107334517 | E067 | -9245 |
chr7 | 107334625 | 107335182 | E067 | -8580 |
chr7 | 107335233 | 107335327 | E067 | -8435 |
chr7 | 107383023 | 107383099 | E067 | 39261 |
chr7 | 107386669 | 107386772 | E067 | 42907 |
chr7 | 107387624 | 107387709 | E067 | 43862 |
chr7 | 107387798 | 107387880 | E067 | 44036 |
chr7 | 107333486 | 107333578 | E068 | -10184 |
chr7 | 107333824 | 107334105 | E068 | -9657 |
chr7 | 107334175 | 107334517 | E068 | -9245 |
chr7 | 107334625 | 107335182 | E068 | -8580 |
chr7 | 107335233 | 107335327 | E068 | -8435 |
chr7 | 107341168 | 107341256 | E068 | -2506 |
chr7 | 107341276 | 107341497 | E068 | -2265 |
chr7 | 107382753 | 107382818 | E068 | 38991 |
chr7 | 107386669 | 107386772 | E068 | 42907 |
chr7 | 107387624 | 107387709 | E068 | 43862 |
chr7 | 107387798 | 107387880 | E068 | 44036 |
chr7 | 107387932 | 107387978 | E068 | 44170 |
chr7 | 107388350 | 107388400 | E068 | 44588 |
chr7 | 107333486 | 107333578 | E069 | -10184 |
chr7 | 107333824 | 107334105 | E069 | -9657 |
chr7 | 107334175 | 107334517 | E069 | -9245 |
chr7 | 107334625 | 107335182 | E069 | -8580 |
chr7 | 107335233 | 107335327 | E069 | -8435 |
chr7 | 107335529 | 107335618 | E069 | -8144 |
chr7 | 107337294 | 107337374 | E069 | -6388 |
chr7 | 107337495 | 107337545 | E069 | -6217 |
chr7 | 107383023 | 107383099 | E069 | 39261 |
chr7 | 107386669 | 107386772 | E069 | 42907 |
chr7 | 107387624 | 107387709 | E069 | 43862 |
chr7 | 107387798 | 107387880 | E069 | 44036 |
chr7 | 107387932 | 107387978 | E069 | 44170 |
chr7 | 107332948 | 107333294 | E070 | -10468 |
chr7 | 107333486 | 107333578 | E070 | -10184 |
chr7 | 107333824 | 107334105 | E070 | -9657 |
chr7 | 107334175 | 107334517 | E070 | -9245 |
chr7 | 107334625 | 107335182 | E070 | -8580 |
chr7 | 107335233 | 107335327 | E070 | -8435 |
chr7 | 107335529 | 107335618 | E070 | -8144 |
chr7 | 107335644 | 107335829 | E070 | -7933 |
chr7 | 107337495 | 107337545 | E070 | -6217 |
chr7 | 107337639 | 107338679 | E070 | -5083 |
chr7 | 107383023 | 107383099 | E070 | 39261 |
chr7 | 107386669 | 107386772 | E070 | 42907 |
chr7 | 107387798 | 107387880 | E070 | 44036 |
chr7 | 107387932 | 107387978 | E070 | 44170 |
chr7 | 107388350 | 107388400 | E070 | 44588 |
chr7 | 107332129 | 107332230 | E071 | -11532 |
chr7 | 107332267 | 107332442 | E071 | -11320 |
chr7 | 107332948 | 107333294 | E071 | -10468 |
chr7 | 107333486 | 107333578 | E071 | -10184 |
chr7 | 107333824 | 107334105 | E071 | -9657 |
chr7 | 107335233 | 107335327 | E071 | -8435 |
chr7 | 107337495 | 107337545 | E071 | -6217 |
chr7 | 107337639 | 107338679 | E071 | -5083 |
chr7 | 107383023 | 107383099 | E071 | 39261 |
chr7 | 107333824 | 107334105 | E072 | -9657 |
chr7 | 107334175 | 107334517 | E072 | -9245 |
chr7 | 107334625 | 107335182 | E072 | -8580 |
chr7 | 107337639 | 107338679 | E072 | -5083 |
chr7 | 107383023 | 107383099 | E072 | 39261 |
chr7 | 107386669 | 107386772 | E072 | 42907 |
chr7 | 107333824 | 107334105 | E073 | -9657 |
chr7 | 107334175 | 107334517 | E073 | -9245 |
chr7 | 107334625 | 107335182 | E073 | -8580 |
chr7 | 107335233 | 107335327 | E073 | -8435 |
chr7 | 107337639 | 107338679 | E073 | -5083 |
chr7 | 107333486 | 107333578 | E074 | -10184 |
chr7 | 107333824 | 107334105 | E074 | -9657 |
chr7 | 107334175 | 107334517 | E074 | -9245 |
chr7 | 107335233 | 107335327 | E074 | -8435 |
chr7 | 107333824 | 107334105 | E081 | -9657 |
chr7 | 107337639 | 107338679 | E081 | -5083 |
chr7 | 107338996 | 107339076 | E081 | -4686 |
chr7 | 107334175 | 107334517 | E082 | -9245 |
chr7 | 107334625 | 107335182 | E082 | -8580 |
chr7 | 107337294 | 107337374 | E082 | -6388 |
chr7 | 107337495 | 107337545 | E082 | -6217 |
chr7 | 107337639 | 107338679 | E082 | -5083 |
chr7 | 107386669 | 107386772 | E082 | 42907 |
chr7 | 107387798 | 107387880 | E082 | 44036 |
chr7 | 107387932 | 107387978 | E082 | 44170 |
chr7 | 107388350 | 107388400 | E082 | 44588 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr7 | 107300841 | 107302741 | E067 | -41021 |
chr7 | 107383118 | 107385525 | E067 | 39356 |
chr7 | 107300841 | 107302741 | E068 | -41021 |
chr7 | 107383118 | 107385525 | E068 | 39356 |
chr7 | 107300841 | 107302741 | E069 | -41021 |
chr7 | 107383118 | 107385525 | E069 | 39356 |
chr7 | 107383118 | 107385525 | E070 | 39356 |
chr7 | 107300841 | 107302741 | E071 | -41021 |
chr7 | 107383118 | 107385525 | E071 | 39356 |
chr7 | 107300841 | 107302741 | E072 | -41021 |
chr7 | 107383118 | 107385525 | E072 | 39356 |
chr7 | 107300841 | 107302741 | E073 | -41021 |
chr7 | 107383118 | 107385525 | E073 | 39356 |
chr7 | 107300841 | 107302741 | E074 | -41021 |
chr7 | 107383118 | 107385525 | E074 | 39356 |
chr7 | 107383118 | 107385525 | E081 | 39356 |
chr7 | 107300841 | 107302741 | E082 | -41021 |
chr7 | 107383118 | 107385525 | E082 | 39356 |