rs10135064

Homo sapiens
T>C / T>G
EXOC5 : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0312 (9343/29904,GnomAD)
G=0416 (12129/29118,TOPMED)
G=0324 (1624/5008,1000G)
G=0136 (523/3854,ALSPAC)
G=0151 (559/3708,TWINSUK)
chr14:57202141 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57202141T>C
GRCh38.p7 chr 14NC_000014.9:g.57202141T>G
GRCh37.p13 chr 14NC_000014.8:g.57668859T>C
GRCh37.p13 chr 14NC_000014.8:g.57668859T>G

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=0.109G=0.891
1000GenomesAmericanSub694T=0.870G=0.130
1000GenomesEast AsianSub1008T=0.886G=0.114
1000GenomesEuropeSub1006T=0.882G=0.118
1000GenomesGlobalStudy-wide5008T=0.676G=0.324
1000GenomesSouth AsianSub978T=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.864G=0.136
The Genome Aggregation DatabaseAfricanSub8686T=0.237G=0.763
The Genome Aggregation DatabaseAmericanSub838T=0.890G=0.110
The Genome Aggregation DatabaseEast AsianSub1620T=0.856G=0.144
The Genome Aggregation DatabaseEuropeSub18458T=0.872G=0.127
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.687G=0.312
The Genome Aggregation DatabaseOtherSub302T=0.850G=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.583G=0.416
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.849G=0.151
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
rs101350647.61E-05alcohol consumption23743675

eQTL of rs10135064 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 rs10135064 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.