rs716690

Homo sapiens
C>A / C>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0258 (7745/29966,GnomAD)
T=0293 (1467/5008,1000G)
T=0057 (219/3854,ALSPAC)
T=0058 (216/3708,TWINSUK)
chr14:57261934 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
58 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57261934C>A
GRCh38.p7 chr 14NC_000014.9:g.57261934C>T
GRCh37.p13 chr 14NC_000014.8:g.57728652C>A
GRCh37.p13 chr 14NC_000014.8:g.57728652C>T

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

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.099T=0.901
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.914T=0.086
1000GenomesEuropeSub1006C=0.948T=0.052
1000GenomesGlobalStudy-wide5008C=0.707T=0.293
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.943T=0.057
The Genome Aggregation DatabaseAfricanSub8712C=0.235T=0.765
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1622C=0.902T=0.098
The Genome Aggregation DatabaseEuropeSub18492C=0.955T=0.044
The Genome Aggregation DatabaseGlobalStudy-wide29966C=0.741T=0.258
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.942T=0.058
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
rs7166906.39E-05alcohol consumption23743675

eQTL of rs716690 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 rs716690 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 )
chr149676535596765824E067-40592
chr149676586096766052E067-40364
chr149681373896813821E0677322
chr149682606896826108E06719652
chr149682623496826289E06719818
chr149682637896826664E06719962
chr149682711596827244E06720699
chr149682734496827466E06720928
chr149682751296827578E06721096
chr149683100896831748E06724592
chr149676586096766052E068-40364
chr149682606896826108E06819652
chr149682623496826289E06819818
chr149682637896826664E06819962
chr149682734496827466E06820928
chr149682751296827578E06821096
chr149685190496851960E06845488
chr149676535596765824E069-40592
chr149676586096766052E069-40364
chr149682637896826664E06919962
chr149682711596827244E06920699
chr149682734496827466E06920928
chr149682751296827578E06921096
chr149683100896831748E06924592
chr149682770496827754E07021288
chr149682775696827800E07021340
chr149683100896831748E07024592
chr149683216396832329E07025747
chr149676535596765824E071-40592
chr149676586096766052E071-40364
chr149682606896826108E07119652
chr149682711596827244E07120699
chr149682734496827466E07120928
chr149682751296827578E07121096
chr149682770496827754E07121288
chr149682775696827800E07121340
chr149683100896831748E07124592
chr149676535596765824E072-40592
chr149676586096766052E072-40364
chr149681029996810365E0723883
chr149682711596827244E07220699
chr149682734496827466E07220928
chr149682751296827578E07221096
chr149682770496827754E07321288
chr149682775696827800E07321340
chr149683100896831748E07324592
chr149676586096766052E074-40364
chr149682711596827244E07420699
chr149682734496827466E07420928
chr149682751296827578E07421096
chr149682637896826664E08119962
chr149682711596827244E08120699
chr149682734496827466E08120928
chr149682751296827578E08121096
chr149682770496827754E08121288
chr149682775696827800E08121340
chr149682770496827754E08221288
chr149682775696827800E08221340










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr149682806696830976E06721650
chr149682806696830976E06821650
chr149682806696830976E06921650
chr149682806696830976E07021650
chr149682806696830976E07121650
chr149682806696830976E07221650
chr149682806696830976E07321650
chr149682806696830976E07421650
chr149682806696830976E08121650
chr149682806696830976E08221650