rs998023

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0260 (7798/29954,GnomAD)
G=0262 (7652/29118,TOPMED)
G=0318 (1593/5008,1000G)
G=0186 (715/3854,ALSPAC)
G=0187 (695/3708,TWINSUK)
chr11:80106208 (GRCh38.p7) (11q14.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.80106208A>G
GRCh37.p13 chr 11NC_000011.9:g.79817252A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.598G=0.402
1000GenomesAmericanSub694A=0.760G=0.240
1000GenomesEast AsianSub1008A=0.537G=0.463
1000GenomesEuropeSub1006A=0.821G=0.179
1000GenomesGlobalStudy-wide5008A=0.682G=0.318
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.814G=0.186
The Genome Aggregation DatabaseAfricanSub8714A=0.632G=0.368
The Genome Aggregation DatabaseAmericanSub838A=0.810G=0.190
The Genome Aggregation DatabaseEast AsianSub1620A=0.514G=0.486
The Genome Aggregation DatabaseEuropeSub18480A=0.806G=0.193
The Genome Aggregation DatabaseGlobalStudy-wide29954A=0.739G=0.260
The Genome Aggregation DatabaseOtherSub302A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.737G=0.262
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.813G=0.187
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
rs9980230.000892alcohol dependence20201924

eQTL of rs998023 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 rs998023 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 )
chr117982907979829135E07011827
chr117982920879829456E07011956
chr117977684179777717E081-39535
chr117979984179800567E081-16685
chr117985614179856238E08138889
chr117985635779856533E08139105
chr117985877679858826E08141524
chr117985892079858985E08141668
chr117985909079859140E08141838
chr117985974279859792E08142490