rs4129402

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0078 (2361/29952,GnomAD)
C=0086 (2522/29118,TOPMED)
C=0073 (368/5008,1000G)
C=0105 (403/3854,ALSPAC)
C=0104 (386/3708,TWINSUK)
chr13:87156170 (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.87156170T>C
GRCh37.p13 chr 13NC_000013.10:g.87808425T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.942C=0.058
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.968C=0.032
1000GenomesEuropeSub1006T=0.908C=0.092
1000GenomesGlobalStudy-wide5008T=0.927C=0.073
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 DatabaseAfricanSub8722T=0.931C=0.069
The Genome Aggregation DatabaseAmericanSub838T=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1618T=0.953C=0.047
The Genome Aggregation DatabaseEuropeSub18472T=0.914C=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29952T=0.921C=0.078
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.913C=0.086
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
rs41294020.000171alcohol consumption23743675

eQTL of rs4129402 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:87808425SLITRK5ENSG00000165300.6T>C7.2166e-3-516445Cerebellar_Hemisphere

meQTL of rs4129402 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 )
chr138778075187780970E070-27455
chr138778099087781070E070-27355
chr138778113987781194E070-27231
chr138778136187781523E070-26902
chr138778160987781698E070-26727
chr138778189787782225E070-26200
chr138778224887782420E070-26005
chr138778273087782844E070-25581
chr138778399687784117E070-24308