rs2712207

Homo sapiens
G>A
SLC26A4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0189 (5656/29932,GnomAD)
A=0144 (4192/29118,TOPMED)
A=0246 (1232/5008,1000G)
A=0209 (804/3854,ALSPAC)
A=0223 (827/3708,TWINSUK)
chr7:107711672 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107711672G>A
GRCh37.p13 chr 7NC_000007.13:g.107352117G>A
SLC26A4 RefSeqGeneNG_008489.1:g.56038G>A

Gene: SLC26A4, solute carrier family 26 member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC26A4 transcriptNM_000441.1:c.N/AIntron Variant
SLC26A4 transcript variant X1XM_005250425.2:c.N/AIntron Variant
SLC26A4 transcript variant X2XM_017012318.1:c.N/AIntron Variant
SLC26A4 transcript variant X3XM_006716025.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.965A=0.035
1000GenomesAmericanSub694G=0.750A=0.250
1000GenomesEast AsianSub1008G=0.659A=0.341
1000GenomesEuropeSub1006G=0.769A=0.231
1000GenomesGlobalStudy-wide5008G=0.754A=0.246
1000GenomesSouth AsianSub978G=0.550A=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.791A=0.209
The Genome Aggregation DatabaseAfricanSub8720G=0.937A=0.063
The Genome Aggregation DatabaseAmericanSub838G=0.760A=0.240
The Genome Aggregation DatabaseEast AsianSub1612G=0.641A=0.359
The Genome Aggregation DatabaseEuropeSub18460G=0.769A=0.230
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.811A=0.189
The Genome Aggregation DatabaseOtherSub302G=0.780A=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.856A=0.144
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.777A=0.223
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs27122071.93E-05alcohol consumption23743675

eQTL of rs2712207 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:107352117AC002467.7ENSG00000241764.3G>A1.1747e-4-32764Cerebellum
Chr7:107352117AC002467.7ENSG00000241764.3G>A2.1985e-5-32764Frontal_Cortex_BA9
Chr7:107352117AC002467.7ENSG00000241764.3G>A1.0521e-4-32764Cortex
Chr7:107352117AC002467.7ENSG00000241764.3G>A4.1131e-5-32764Cerebellar_Hemisphere
Chr7:107352117AC002467.7ENSG00000241764.3G>A4.3055e-3-32764Caudate_basal_ganglia
Chr7:107352117AC002467.7ENSG00000241764.3G>A1.0776e-3-32764Nucleus_accumbens_basal_ganglia

meQTL of rs2712207 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr7107333486107333578E067-18539
chr7107333824107334105E067-18012
chr7107334175107334517E067-17600
chr7107334625107335182E067-16935
chr7107335233107335327E067-16790
chr7107383023107383099E06730906
chr7107386669107386772E06734552
chr7107387624107387709E06735507
chr7107387798107387880E06735681
chr7107333486107333578E068-18539
chr7107333824107334105E068-18012
chr7107334175107334517E068-17600
chr7107334625107335182E068-16935
chr7107335233107335327E068-16790
chr7107341168107341256E068-10861
chr7107341276107341497E068-10620
chr7107382753107382818E06830636
chr7107386669107386772E06834552
chr7107387624107387709E06835507
chr7107387798107387880E06835681
chr7107387932107387978E06835815
chr7107388350107388400E06836233
chr7107333486107333578E069-18539
chr7107333824107334105E069-18012
chr7107334175107334517E069-17600
chr7107334625107335182E069-16935
chr7107335233107335327E069-16790
chr7107335529107335618E069-16499
chr7107337294107337374E069-14743
chr7107337495107337545E069-14572
chr7107383023107383099E06930906
chr7107386669107386772E06934552
chr7107387624107387709E06935507
chr7107387798107387880E06935681
chr7107387932107387978E06935815
chr7107332948107333294E070-18823
chr7107333486107333578E070-18539
chr7107333824107334105E070-18012
chr7107334175107334517E070-17600
chr7107334625107335182E070-16935
chr7107335233107335327E070-16790
chr7107335529107335618E070-16499
chr7107335644107335829E070-16288
chr7107337495107337545E070-14572
chr7107337639107338679E070-13438
chr7107383023107383099E07030906
chr7107386669107386772E07034552
chr7107387798107387880E07035681
chr7107387932107387978E07035815
chr7107388350107388400E07036233
chr7107332129107332230E071-19887
chr7107332267107332442E071-19675
chr7107332948107333294E071-18823
chr7107333486107333578E071-18539
chr7107333824107334105E071-18012
chr7107335233107335327E071-16790
chr7107337495107337545E071-14572
chr7107337639107338679E071-13438
chr7107383023107383099E07130906
chr7107333824107334105E072-18012
chr7107334175107334517E072-17600
chr7107334625107335182E072-16935
chr7107337639107338679E072-13438
chr7107383023107383099E07230906
chr7107386669107386772E07234552
chr7107333824107334105E073-18012
chr7107334175107334517E073-17600
chr7107334625107335182E073-16935
chr7107335233107335327E073-16790
chr7107337639107338679E073-13438
chr7107333486107333578E074-18539
chr7107333824107334105E074-18012
chr7107334175107334517E074-17600
chr7107335233107335327E074-16790
chr7107333824107334105E081-18012
chr7107337639107338679E081-13438
chr7107338996107339076E081-13041
chr7107334175107334517E082-17600
chr7107334625107335182E082-16935
chr7107337294107337374E082-14743
chr7107337495107337545E082-14572
chr7107337639107338679E082-13438
chr7107386669107386772E08234552
chr7107387798107387880E08235681
chr7107387932107387978E08235815
chr7107388350107388400E08236233










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107383118107385525E06731001
chr7107383118107385525E06831001
chr7107383118107385525E06931001
chr7107383118107385525E07031001
chr7107383118107385525E07131001
chr7107383118107385525E07231001
chr7107383118107385525E07331001
chr7107383118107385525E07431001
chr7107383118107385525E08131001
chr7107383118107385525E08231001