rs1858930

Homo sapiens
A>C
SLC26A4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0227 (6805/29924,GnomAD)
A==0231 (6748/29118,TOPMED)
A==0161 (804/5008,1000G)
A==0260 (1001/3854,ALSPAC)
A==0267 (989/3708,TWINSUK)
chr7:107688092 (GRCh38.p7) (7q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.107688092A>C
GRCh37.p13 chr 7NC_000007.13:g.107328537A>C
SLC26A4 RefSeqGeneNG_008489.1:g.32458A>C

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 X3XM_006716025.3:c.N/AIntron Variant
SLC26A4 transcript variant X2XM_017012318.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.196C=0.804
1000GenomesAmericanSub694A=0.200C=0.800
1000GenomesEast AsianSub1008A=0.012C=0.988
1000GenomesEuropeSub1006A=0.256C=0.744
1000GenomesGlobalStudy-wide5008A=0.161C=0.839
1000GenomesSouth AsianSub978A=0.140C=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.260C=0.740
The Genome Aggregation DatabaseAfricanSub8698A=0.212C=0.788
The Genome Aggregation DatabaseAmericanSub836A=0.150C=0.850
The Genome Aggregation DatabaseEast AsianSub1618A=0.009C=0.991
The Genome Aggregation DatabaseEuropeSub18470A=0.256C=0.743
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.227C=0.772
The Genome Aggregation DatabaseOtherSub302A=0.270C=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.231C=0.768
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.267C=0.733
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
rs18589301.1E-05alcohol consumption23743675

eQTL of rs1858930 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs1858930 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 )
chr7107333486107333578E0674949
chr7107333824107334105E0675287
chr7107334175107334517E0675638
chr7107334625107335182E0676088
chr7107335233107335327E0676696
chr7107333486107333578E0684949
chr7107333824107334105E0685287
chr7107334175107334517E0685638
chr7107334625107335182E0686088
chr7107335233107335327E0686696
chr7107341168107341256E06812631
chr7107341276107341497E06812739
chr7107333486107333578E0694949
chr7107333824107334105E0695287
chr7107334175107334517E0695638
chr7107334625107335182E0696088
chr7107335233107335327E0696696
chr7107335529107335618E0696992
chr7107337294107337374E0698757
chr7107337495107337545E0698958
chr7107332948107333294E0704411
chr7107333486107333578E0704949
chr7107333824107334105E0705287
chr7107334175107334517E0705638
chr7107334625107335182E0706088
chr7107335233107335327E0706696
chr7107335529107335618E0706992
chr7107335644107335829E0707107
chr7107337495107337545E0708958
chr7107337639107338679E0709102
chr7107332129107332230E0713592
chr7107332267107332442E0713730
chr7107332948107333294E0714411
chr7107333486107333578E0714949
chr7107333824107334105E0715287
chr7107335233107335327E0716696
chr7107337495107337545E0718958
chr7107337639107338679E0719102
chr7107333824107334105E0725287
chr7107334175107334517E0725638
chr7107334625107335182E0726088
chr7107337639107338679E0729102
chr7107333824107334105E0735287
chr7107334175107334517E0735638
chr7107334625107335182E0736088
chr7107335233107335327E0736696
chr7107337639107338679E0739102
chr7107333486107333578E0744949
chr7107333824107334105E0745287
chr7107334175107334517E0745638
chr7107335233107335327E0746696
chr7107282141107282493E081-46044
chr7107282591107282693E081-45844
chr7107282863107282998E081-45539
chr7107283113107283227E081-45310
chr7107283673107283730E081-44807
chr7107283865107284151E081-44386
chr7107284299107284461E081-44076
chr7107285676107285811E081-42726
chr7107286010107286060E081-42477
chr7107286129107286181E081-42356
chr7107286235107286311E081-42226
chr7107333824107334105E0815287
chr7107337639107338679E0819102
chr7107338996107339076E08110459
chr7107282141107282493E082-46044
chr7107282591107282693E082-45844
chr7107282863107282998E082-45539
chr7107283113107283227E082-45310
chr7107283673107283730E082-44807
chr7107283865107284151E082-44386
chr7107284299107284461E082-44076
chr7107285676107285811E082-42726
chr7107286010107286060E082-42477
chr7107286129107286181E082-42356
chr7107286235107286311E082-42226
chr7107334175107334517E0825638
chr7107334625107335182E0826088
chr7107337294107337374E0828757
chr7107337495107337545E0828958
chr7107337639107338679E0829102










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr7107300841107302741E067-25796
chr7107300841107302741E068-25796
chr7107300841107302741E069-25796
chr7107300841107302741E071-25796
chr7107300841107302741E072-25796
chr7107300841107302741E073-25796
chr7107300841107302741E074-25796
chr7107300841107302741E082-25796