rs11850616

Homo sapiens
C>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0238 (7134/29864,GnomAD)
T=0343 (10000/29118,TOPMED)
T=0274 (1374/5008,1000G)
T=0059 (228/3854,ALSPAC)
T=0060 (224/3708,TWINSUK)
chr14:57265255 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57265255C>T
GRCh37.p13 chr 14NC_000014.8:g.57731973C>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=0.172T=0.828
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.914T=0.086
1000GenomesEuropeSub1006C=0.942T=0.058
1000GenomesGlobalStudy-wide5008C=0.726T=0.274
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.941T=0.059
The Genome Aggregation DatabaseAfricanSub8684C=0.306T=0.694
The Genome Aggregation DatabaseAmericanSub832C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1610C=0.901T=0.099
The Genome Aggregation DatabaseEuropeSub18436C=0.954T=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29864C=0.761T=0.238
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.656T=0.343
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.940T=0.060
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
rs118506166.61E-05alcohol consumption23743675

eQTL of rs11850616 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 rs11850616 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 )
chr145773227857732427E067305
chr145773245857732577E067485
chr145773286157733116E067888
chr145773317257733273E0671199
chr145773352257733779E0671549
chr145773391657733990E0671943
chr145773866557738723E0676692
chr145771797557718025E068-13948
chr145773352257733779E0681549
chr145773391657733990E0681943
chr145773792357737971E0685950
chr145773807557738166E0686102
chr145772167257721873E069-10100
chr145772213357722183E069-9790
chr145773792357737971E0695950
chr145773227857732427E070305
chr145773245857732577E070485
chr145773792357737971E0705950
chr145773807557738166E0706102
chr145771797557718025E071-13948
chr145772167257721873E071-10100
chr145772213357722183E071-9790
chr145773227857732427E071305
chr145773245857732577E071485
chr145773286157733116E071888
chr145773317257733273E0711199
chr145773352257733779E0711549
chr145773792357737971E0715950
chr145773807557738166E0716102
chr145772167257721873E072-10100
chr145772213357722183E072-9790
chr145773391657733990E0721943
chr145773792357737971E0725950
chr145773792357737971E0735950
chr145773807557738166E0736102
chr145772167257721873E074-10100
chr145772213357722183E074-9790
chr145772312357723173E074-8800
chr145772331857723368E074-8605
chr145773286157733116E074888
chr145773317257733273E0741199
chr145773391657733990E0741943
chr145773792357737971E0745950
chr145773807557738166E0746102
chr145773286157733116E081888
chr145773317257733273E0811199
chr145773352257733779E0811549
chr145773391657733990E0811943
chr145773792357737971E0815950
chr145773807557738166E0816102









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E0672581
chr145773474057736585E0672767
chr145773674957736822E0674776
chr145773694557736999E0674972
chr145773455457734668E0682581
chr145773474057736585E0682767
chr145773674957736822E0684776
chr145773694557736999E0684972
chr145773455457734668E0692581
chr145773474057736585E0692767
chr145773674957736822E0694776
chr145773694557736999E0694972
chr145773455457734668E0702581
chr145773474057736585E0702767
chr145773674957736822E0704776
chr145773694557736999E0704972
chr145773455457734668E0712581
chr145773474057736585E0712767
chr145773674957736822E0714776
chr145773694557736999E0714972
chr145773474057736585E0722767
chr145773674957736822E0724776
chr145773694557736999E0724972
chr145773455457734668E0732581
chr145773474057736585E0732767
chr145773674957736822E0734776
chr145773694557736999E0734972
chr145773455457734668E0742581
chr145773474057736585E0742767
chr145773455457734668E0812581
chr145773474057736585E0812767
chr145773455457734668E0822581
chr145773474057736585E0822767
chr145773674957736822E0824776
chr145773694557736999E0824972