rs9516472

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0079 (2375/29968,GnomAD)
C=0085 (2479/29118,TOPMED)
C=0072 (363/5008,1000G)
C=0105 (403/3854,ALSPAC)
C=0104 (387/3708,TWINSUK)
chr13:87108709 (GRCh38.p7) (13q31.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.87108709T>C
GRCh37.p13 chr 13NC_000013.10:g.87760964T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.939C=0.061
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.968C=0.032
1000GenomesEuropeSub1006T=0.907C=0.093
1000GenomesGlobalStudy-wide5008T=0.928C=0.072
1000GenomesSouth AsianSub978T=0.890C=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.895C=0.105
The Genome Aggregation DatabaseAfricanSub8732T=0.930C=0.070
The Genome Aggregation DatabaseAmericanSub836T=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1616T=0.954C=0.046
The Genome Aggregation DatabaseEuropeSub18482T=0.914C=0.086
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.920C=0.079
The Genome Aggregation DatabaseOtherSub302T=0.840C=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.914C=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.896C=0.104
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs95164727.64E-05alcohol consumption23743675

eQTL of rs9516472 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 rs9516472 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 )
chr138778075187780970E07019787
chr138778099087781070E07020026
chr138778113987781194E07020175
chr138778136187781523E07020397
chr138778160987781698E07020645
chr138778189787782225E07020933
chr138778224887782420E07021284
chr138778273087782844E07021766
chr138778399687784117E07023032