rs10137456

Homo sapiens
T>C
EXOC5 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0316 (9475/29936,GnomAD)
C=0420 (12247/29118,TOPMED)
C=0325 (1628/5008,1000G)
C=0138 (532/3854,ALSPAC)
C=0152 (563/3708,TWINSUK)
chr14:57202285 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57202285T>C
GRCh37.p13 chr 14NC_000014.8:g.57669003T>C

Gene: EXOC5, exocyst complex component 5(minus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
EXOC5 transcriptNM_006544.3:c.N/ADownstream Transcript Variant
EXOC5 transcript variant X1XM_005267272.3:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.106C=0.894
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.886C=0.114
1000GenomesEuropeSub1006T=0.881C=0.119
1000GenomesGlobalStudy-wide5008T=0.675C=0.325
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.862C=0.138
The Genome Aggregation DatabaseAfricanSub8710T=0.229C=0.771
The Genome Aggregation DatabaseAmericanSub838T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1618T=0.857C=0.143
The Genome Aggregation DatabaseEuropeSub18468T=0.870C=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.683C=0.316
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.579C=0.420
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.848C=0.152
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
rs101374564.24E-05alcohol consumption23743675

eQTL of rs10137456 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 rs10137456 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 )
chr145771797557718025E06848972
chr145771797557718025E07148972
chr145764085457640986E081-28017
chr145764112257641684E081-27319
chr145764209457642148E081-26855
chr145764228557642434E081-26569