rs9523748

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0064 (1939/29958,GnomAD)
T=0066 (1923/29118,TOPMED)
T=0057 (284/5008,1000G)
T=0104 (401/3854,ALSPAC)
T=0100 (372/3708,TWINSUK)
chr13:86896759 (GRCh38.p7) (13q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.86896759C>T
GRCh37.p13 chr 13NC_000013.10:g.87549014C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.986T=0.014
1000GenomesAmericanSub694C=0.940T=0.060
1000GenomesEast AsianSub1008C=0.966T=0.034
1000GenomesEuropeSub1006C=0.908T=0.092
1000GenomesGlobalStudy-wide5008C=0.943T=0.057
1000GenomesSouth AsianSub978C=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.896T=0.104
The Genome Aggregation DatabaseAfricanSub8730C=0.978T=0.022
The Genome Aggregation DatabaseAmericanSub836C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1618C=0.951T=0.049
The Genome Aggregation DatabaseEuropeSub18472C=0.914T=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29958C=0.935T=0.064
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.934T=0.066
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.900T=0.100
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
rs95237480.000193alcohol consumption23743675

eQTL of rs9523748 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:87549014SLITRK5ENSG00000165300.6C>T7.2166e-3-775856Cerebellar_Hemisphere

meQTL of rs9523748 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 )
chr138752272887523350E081-25664
chr138757943087579480E08130416