rs2188873

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
G==0357 (10671/29858,GnomAD)
G==0349 (10170/29118,TOPMED)
G==0327 (1637/5008,1000G)
G==0361 (1392/3854,ALSPAC)
G==0375 (1389/3708,TWINSUK)
chr7:20486643 (GRCh38.p7) (7p21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.20486643G>A
GRCh37.p13 chr 7NC_000007.13:g.20526266G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.374A=0.626
1000GenomesAmericanSub694G=0.400A=0.600
1000GenomesEast AsianSub1008G=0.149A=0.851
1000GenomesEuropeSub1006G=0.374A=0.626
1000GenomesGlobalStudy-wide5008G=0.327A=0.673
1000GenomesSouth AsianSub978G=0.340A=0.660
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.361A=0.639
The Genome Aggregation DatabaseAfricanSub8678G=0.365A=0.635
The Genome Aggregation DatabaseAmericanSub838G=0.390A=0.610
The Genome Aggregation DatabaseEast AsianSub1616G=0.127A=0.873
The Genome Aggregation DatabaseEuropeSub18424G=0.373A=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29858G=0.357A=0.642
The Genome Aggregation DatabaseOtherSub302G=0.320A=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.349A=0.650
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.375A=0.625
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
rs21888730.000258alcohol consumption23743675

eQTL of rs2188873 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 rs2188873 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 )
chr72055400120554508E06827735
chr72055003720550470E06923771
chr72055400120554508E06927735
chr72055917120559551E06932905
chr72054974520549956E07023479
chr72055003720550470E07023771
chr72055917120559551E07032905
chr72055003720550470E07123771
chr72055400120554508E07127735
chr72055917120559551E07132905
chr72055917120559551E07232905
chr72055003720550470E07423771
chr72055070820550762E07424442
chr72048636120486411E081-39855
chr72048653020486590E081-39676
chr72048661520488024E081-38242
chr72048812720488198E081-38068
chr72048823620488440E081-37826
chr72054354620544082E08117280
chr72055003720550470E08123771
chr72047904620479096E082-47170
chr72047915020479221E082-47045
chr72048636120486411E082-39855
chr72048653020486590E082-39676
chr72048661520488024E082-38242
chr72054354620544082E08217280
chr72054974520549956E08223479
chr72055003720550470E08223771
chr72055400120554508E08227735