rs8003535

Homo sapiens
G>A / G>T
EXOC5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0243 (7265/29874,GnomAD)
T=0350 (10213/29118,TOPMED)
T=0278 (1394/5008,1000G)
T=0059 (227/3854,ALSPAC)
T=0061 (227/3708,TWINSUK)
chr14:57205286 (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.57205286G>A
GRCh38.p7 chr 14NC_000014.9:g.57205286G>T
GRCh37.p13 chr 14NC_000014.8:g.57672004G>A
GRCh37.p13 chr 14NC_000014.8:g.57672004G>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/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.156T=0.844
1000GenomesAmericanSub694G=0.900T=0.100
1000GenomesEast AsianSub1008G=0.914T=0.086
1000GenomesEuropeSub1006G=0.942T=0.058
1000GenomesGlobalStudy-wide5008G=0.722T=0.278
1000GenomesSouth AsianSub978G=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.941T=0.059
The Genome Aggregation DatabaseAfricanSub8700G=0.292T=0.708
The Genome Aggregation DatabaseAmericanSub838G=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1612G=0.900T=0.100
The Genome Aggregation DatabaseEuropeSub18422G=0.954T=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29874G=0.756T=0.243
The Genome Aggregation DatabaseOtherSub302G=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.649T=0.350
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.939T=0.061
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
rs80035356.05E-05alcohol consumption23743675

eQTL of rs8003535 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 rs8003535 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.