rs10134311

Homo sapiens
C>T
EXOC5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0299 (8961/29902,GnomAD)
T=0398 (11615/29118,TOPMED)
T=0311 (1556/5008,1000G)
T=0135 (520/3854,ALSPAC)
T=0150 (555/3708,TWINSUK)
chr14:57203324 (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.57203324C>T
GRCh37.p13 chr 14NC_000014.8:g.57670042C>T

Gene: EXOC5, exocyst complex component 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EXOC5 transcriptNM_006544.3:c.N/A3 Prime UTR Variant
EXOC5 transcript variant X1XM_005267272.3:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.156T=0.844
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.886T=0.114
1000GenomesEuropeSub1006C=0.882T=0.118
1000GenomesGlobalStudy-wide5008C=0.689T=0.311
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.865T=0.135
The Genome Aggregation DatabaseAfricanSub8682C=0.280T=0.720
The Genome Aggregation DatabaseAmericanSub832C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1614C=0.855T=0.145
The Genome Aggregation DatabaseEuropeSub18472C=0.873T=0.126
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.700T=0.299
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.601T=0.398
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.850T=0.150
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
rs101343113.52E-05alcohol consumption23743675

eQTL of rs10134311 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 rs10134311 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 )
chr145771797557718025E06847933
chr145771797557718025E07147933
chr145764085457640986E081-29056
chr145764112257641684E081-28358
chr145764209457642148E081-27894
chr145764228557642434E081-27608