rs913992

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
C==0318 (9512/29904,GnomAD)
C==0303 (8830/29116,TOPMED)
C==0304 (1522/5008,1000G)
C==0343 (1321/3854,ALSPAC)
C==0331 (1227/3708,TWINSUK)
chr1:244151174 (GRCh38.p7) (1q44)
AD
GWASdb2
1   publication(s)
See rs on genome
68 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.244151174C>T
GRCh37.p13 chr 1NC_000001.10:g.244314476C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.255T=0.745
1000GenomesAmericanSub694C=0.330T=0.670
1000GenomesEast AsianSub1008C=0.383T=0.617
1000GenomesEuropeSub1006C=0.307T=0.693
1000GenomesGlobalStudy-wide5008C=0.304T=0.696
1000GenomesSouth AsianSub978C=0.270T=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.343T=0.657
The Genome Aggregation DatabaseAfricanSub8702C=0.252T=0.748
The Genome Aggregation DatabaseAmericanSub838C=0.290T=0.710
The Genome Aggregation DatabaseEast AsianSub1608C=0.363T=0.637
The Genome Aggregation DatabaseEuropeSub18454C=0.346T=0.653
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.318T=0.681
The Genome Aggregation DatabaseOtherSub302C=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.303T=0.696
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.331T=0.669
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
rs9139920.00013alcohol dependence(early age of onset)20201924
rs9139920.00044alcohol dependence20201924

eQTL of rs913992 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 rs913992 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 )
chr1244319286244319350E0674810
chr1244323766244324053E0679290
chr1244324454244324681E0679978
chr1244334703244334817E06720227
chr1244350624244350877E06736148
chr1244323766244324053E0689290
chr1244324454244324681E0689978
chr1244334703244334817E06820227
chr1244335027244335187E06820551
chr1244335525244335748E06821049
chr1244350624244350877E06836148
chr1244319050244319238E0694574
chr1244319286244319350E0694810
chr1244319419244319482E0694943
chr1244323546244323672E0699070
chr1244323766244324053E0699290
chr1244324454244324681E0699978
chr1244350624244350877E06936148
chr1244269609244269736E070-44740
chr1244269948244270009E070-44467
chr1244270418244270528E070-43948
chr1244318180244318880E0703704
chr1244334703244334817E07020227
chr1244335027244335187E07020551
chr1244335525244335748E07021049
chr1244360353244360704E07045877
chr1244301873244301962E071-12514
chr1244317941244318014E0713465
chr1244323546244323672E0719070
chr1244323766244324053E0719290
chr1244324454244324681E0719978
chr1244334703244334817E07120227
chr1244335027244335187E07120551
chr1244350624244350877E07136148
chr1244319286244319350E0724810
chr1244323766244324053E0729290
chr1244334703244334817E07220227
chr1244350624244350877E07236148
chr1244319050244319238E0734574
chr1244319286244319350E0734810
chr1244334703244334817E07320227
chr1244335027244335187E07320551
chr1244319286244319350E0744810
chr1244323546244323672E0749070
chr1244323766244324053E0749290
chr1244334703244334817E07420227
chr1244350624244350877E07436148
chr1244265942244265986E081-48490
chr1244266162244266212E081-48264
chr1244301873244301962E081-12514
chr1244302298244302406E081-12070
chr1244302411244302647E081-11829
chr1244334703244334817E08120227
chr1244335027244335187E08120551
chr1244335525244335748E08121049
chr1244335771244335932E08121295
chr1244336083244336157E08121607
chr1244336677244336739E08122201
chr1244337425244337579E08122949
chr1244338651244338762E08124175
chr1244269068244269258E082-45218
chr1244269362244269436E082-45040
chr1244269609244269736E082-44740
chr1244269948244270009E082-44467
chr1244334703244334817E08220227
chr1244335027244335187E08220551
chr1244335525244335748E08221049
chr1244335771244335932E08221295