rs223002

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
G==0375 (11208/29878,GnomAD)
G==0396 (11541/29118,TOPMED)
G==0375 (1879/5008,1000G)
G==0372 (1435/3854,ALSPAC)
G==0380 (1408/3708,TWINSUK)
chr7:74169373 (GRCh38.p7) (7q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.74169373G>A
GRCh38.p7 chr 7NC_000007.14:g.74169373G>T
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.1698609G>A
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.1698609G>T
GRCh37.p13 chr 7NC_000007.13:g.73583703G>A
GRCh37.p13 chr 7NC_000007.13:g.73583703G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.454T=0.546
1000GenomesAmericanSub694G=0.400T=0.600
1000GenomesEast AsianSub1008G=0.249T=0.751
1000GenomesEuropeSub1006G=0.344T=0.656
1000GenomesGlobalStudy-wide5008G=0.375T=0.625
1000GenomesSouth AsianSub978G=0.420T=0.580
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.372T=0.628
The Genome Aggregation DatabaseAfricanSub8698G=0.436A=0.000
The Genome Aggregation DatabaseAmericanSub830G=0.370A=0.00,
The Genome Aggregation DatabaseEast AsianSub1616G=0.247A=0.000
The Genome Aggregation DatabaseEuropeSub18434G=0.357A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29878G=0.375A=0.000
The Genome Aggregation DatabaseOtherSub300G=0.390A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.396T=0.603
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.380T=0.620
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
rs2230020.000159alcohol dependence20201924

eQTL of rs223002 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 rs223002 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.