rs939998

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0378 (11304/29882,GnomAD)
T=0363 (10594/29118,TOPMED)
T=0430 (2153/5008,1000G)
T=0319 (1230/3854,ALSPAC)
T=0321 (1190/3708,TWINSUK)
chr2:158914458 (GRCh38.p7) (2q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.158914458C>T
GRCh37.p13 chr 2NC_000002.11:g.159770970C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.613T=0.387
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.318T=0.682
1000GenomesEuropeSub1006C=0.655T=0.345
1000GenomesGlobalStudy-wide5008C=0.570T=0.430
1000GenomesSouth AsianSub978C=0.670T=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.681T=0.319
The Genome Aggregation DatabaseAfricanSub8686C=0.604T=0.396
The Genome Aggregation DatabaseAmericanSub834C=0.560T=0.440
The Genome Aggregation DatabaseEast AsianSub1612C=0.315T=0.685
The Genome Aggregation DatabaseEuropeSub18448C=0.658T=0.341
The Genome Aggregation DatabaseGlobalStudy-wide29882C=0.621T=0.378
The Genome Aggregation DatabaseOtherSub302C=0.690T=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.636T=0.363
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.679T=0.321
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs9399981.03E-05alcohol consumption23953852

eQTL of rs939998 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 rs939998 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 )
chr2159775021159775221E0674051
chr2159809885159811305E06838915
chr2159775021159775221E0704051
chr2159749323159749992E071-20978
chr2159749323159749992E072-20978
chr2159809885159811305E07238915
chr2159749323159749992E073-20978
chr2159809885159811305E07438915
chr2159749323159749992E081-20978
chr2159750081159750347E081-20623