rs717360

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0224 (6711/29840,GnomAD)
T=0230 (6707/29118,TOPMED)
T=0291 (1458/5008,1000G)
T=0178 (687/3854,ALSPAC)
T=0178 (661/3708,TWINSUK)
chr4:70324584 (GRCh38.p7) (4q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.70324584C>T
GRCh37.p13 chr 4NC_000004.11:g.71190301C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.747T=0.253
1000GenomesAmericanSub694C=0.770T=0.230
1000GenomesEast AsianSub1008C=0.624T=0.376
1000GenomesEuropeSub1006C=0.776T=0.224
1000GenomesGlobalStudy-wide5008C=0.709T=0.291
1000GenomesSouth AsianSub978C=0.630T=0.370
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.822T=0.178
The Genome Aggregation DatabaseAfricanSub8712C=0.762T=0.238
The Genome Aggregation DatabaseAmericanSub832C=0.720T=0.280
The Genome Aggregation DatabaseEast AsianSub1568C=0.628T=0.372
The Genome Aggregation DatabaseEuropeSub18426C=0.798T=0.201
The Genome Aggregation DatabaseGlobalStudy-wide29840C=0.775T=0.224
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.769T=0.230
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.822T=0.178
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs7173607.94E-05alcohol dependence19581569

eQTL of rs717360 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 rs717360 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 )
chr47123127171231638E07040970
chr47114273271143309E071-46992