rs9860475

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0143 (4288/29908,GnomAD)
T=0147 (4290/29118,TOPMED)
T=0119 (594/5008,1000G)
T=0161 (622/3854,ALSPAC)
T=0162 (602/3708,TWINSUK)
chr3:16707517 (GRCh38.p7) (3p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.16707517C>T
GRCh37.p13 chr 3NC_000003.11:g.16749024C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.902T=0.098
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.982T=0.018
1000GenomesEuropeSub1006C=0.832T=0.168
1000GenomesGlobalStudy-wide5008C=0.881T=0.119
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.839T=0.161
The Genome Aggregation DatabaseAfricanSub8682C=0.874T=0.126
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1618C=0.988T=0.012
The Genome Aggregation DatabaseEuropeSub18468C=0.834T=0.165
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.856T=0.143
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.852T=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.838T=0.162
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
rs98604750.000405alcohol dependence20201924

eQTL of rs9860475 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 rs9860475 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 )
chr31669939516700076E070-48948
chr31670014416700423E070-48601
chr31673907216739639E070-9385
chr31673971316739837E070-9187