rs993452

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0134 (4028/29898,GnomAD)
C=0165 (4816/29118,TOPMED)
C=0128 (640/5008,1000G)
C=0105 (405/3854,ALSPAC)
C=0104 (387/3708,TWINSUK)
chr13:87109921 (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.87109921T>C
GRCh37.p13 chr 13NC_000013.10:g.87762176T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.745C=0.255
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.968C=0.032
1000GenomesEuropeSub1006T=0.905C=0.095
1000GenomesGlobalStudy-wide5008T=0.872C=0.128
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.895C=0.105
The Genome Aggregation DatabaseAfricanSub8706T=0.742C=0.258
The Genome Aggregation DatabaseAmericanSub836T=0.920C=0.080
The Genome Aggregation DatabaseEast AsianSub1614T=0.954C=0.046
The Genome Aggregation DatabaseEuropeSub18440T=0.913C=0.086
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.865C=0.134
The Genome Aggregation DatabaseOtherSub302T=0.840C=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.834C=0.165
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
rs9934527.63E-05alcohol consumption23743675

eQTL of rs993452 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:87762176SLITRK5ENSG00000165300.6T>C7.2166e-3-562694Cerebellar_Hemisphere

meQTL of rs993452 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 )
chr138778075187780970E07018575
chr138778099087781070E07018814
chr138778113987781194E07018963
chr138778136187781523E07019185
chr138778160987781698E07019433
chr138778189787782225E07019721
chr138778224887782420E07020072
chr138778273087782844E07020554
chr138778399687784117E07021820