rs989373

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0416 (12476/29938,GnomAD)
T==0440 (12838/29116,TOPMED)
T==0475 (2378/5008,1000G)
T==0380 (1463/3854,ALSPAC)
T==0375 (1389/3708,TWINSUK)
chr2:48931186 (GRCh38.p7) (2p16.3)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.48931186T>C
GRCh37.p13 chr 2NC_000002.11:g.49158325T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.524C=0.476
1000GenomesAmericanSub694T=0.380C=0.620
1000GenomesEast AsianSub1008T=0.715C=0.285
1000GenomesEuropeSub1006T=0.363C=0.637
1000GenomesGlobalStudy-wide5008T=0.475C=0.525
1000GenomesSouth AsianSub978T=0.340C=0.660
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.380C=0.620
The Genome Aggregation DatabaseAfricanSub8708T=0.495C=0.505
The Genome Aggregation DatabaseAmericanSub838T=0.420C=0.580
The Genome Aggregation DatabaseEast AsianSub1620T=0.674C=0.326
The Genome Aggregation DatabaseEuropeSub18470T=0.356C=0.643
The Genome Aggregation DatabaseGlobalStudy-wide29938T=0.416C=0.583
The Genome Aggregation DatabaseOtherSub302T=0.450C=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.440C=0.559
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.375C=0.625
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs9893730.00074alcohol dependence20201924

eQTL of rs989373 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 rs989373 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 )
chr24912716549127244E067-31081
chr24912753449127781E067-30544
chr24912789649128105E067-30220
chr24913253349132613E067-25712
chr24913325149134189E067-24136
chr24912716549127244E068-31081
chr24912753449127781E068-30544
chr24912789649128105E068-30220
chr24913253349132613E068-25712
chr24913283749132877E068-25448
chr24913297749133080E068-25245
chr24913325149134189E068-24136
chr24912716549127244E069-31081
chr24912753449127781E069-30544
chr24912789649128105E069-30220
chr24913253349132613E069-25712
chr24913283749132877E069-25448
chr24913297749133080E069-25245
chr24913325149134189E069-24136
chr24912716549127244E070-31081
chr24912753449127781E070-30544
chr24912789649128105E070-30220
chr24916781249168087E0709487
chr24917368649174071E07015361
chr24912716549127244E071-31081
chr24912753449127781E071-30544
chr24912789649128105E071-30220
chr24913253349132613E071-25712
chr24913283749132877E071-25448
chr24913325149134189E071-24136
chr24912716549127244E072-31081
chr24912753449127781E072-30544
chr24912789649128105E072-30220
chr24913253349132613E072-25712
chr24913283749132877E072-25448
chr24913297749133080E072-25245
chr24913325149134189E072-24136
chr24912716549127244E073-31081
chr24912753449127781E073-30544
chr24912789649128105E073-30220
chr24912716549127244E074-31081
chr24912753449127781E074-30544
chr24912789649128105E074-30220
chr24913253349132613E074-25712
chr24913283749132877E074-25448
chr24913325149134189E074-24136
chr24915681349157303E081-1022
chr24915681349157303E082-1022
chr24916585749165911E0827532
chr24917072449170814E08212399