rs7317253

Homo sapiens
T>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0065 (1942/29874,GnomAD)
G=0088 (2583/29116,TOPMED)
G=0085 (424/5008,1000G)
G=0045 (173/3854,ALSPAC)
G=0049 (182/3708,TWINSUK)
chr13:70395170 (GRCh38.p7) (13q21.33)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.70395170T>G
GRCh37.p13 chr 13NC_000013.10:g.70969302T>G
GRCh38.p7 chr 13 alt locus HSCHR13_1_CTG6NT_187597.1:g.56126T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.860G=0.140
1000GenomesAmericanSub694T=0.890G=0.110
1000GenomesEast AsianSub1008T=0.999G=0.001
1000GenomesEuropeSub1006T=0.941G=0.059
1000GenomesGlobalStudy-wide5008T=0.915G=0.085
1000GenomesSouth AsianSub978T=0.890G=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.955G=0.045
The Genome Aggregation DatabaseAfricanSub8722T=0.885G=0.115
The Genome Aggregation DatabaseAmericanSub838T=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1576T=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18436T=0.958G=0.041
The Genome Aggregation DatabaseGlobalStudy-wide29874T=0.935G=0.065
The Genome Aggregation DatabaseOtherSub302T=0.850G=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.911G=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.951G=0.049
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
rs73172530.000025alcohol dependence(early age of onset)20201924
rs73172530.0000251alcoholismpha002892
rs73172530.00031alcohol dependence20201924

eQTL of rs7317253 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 rs7317253 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 )
chr137094995370950331E070-18971
chr137093767670937855E081-31447
chr137093802270938695E081-30607