rs10141811

Homo sapiens
C>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0238 (7135/29954,GnomAD)
T=0342 (9986/29118,TOPMED)
T=0274 (1374/5008,1000G)
T=0059 (227/3854,ALSPAC)
T=0061 (226/3708,TWINSUK)
chr14:57264030 (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.57264030C>T
GRCh37.p13 chr 14NC_000014.8:g.57730748C>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 DatabaseAfricanSub8704C=0.308T=0.692
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.902T=0.098
The Genome Aggregation DatabaseEuropeSub18490C=0.954T=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29954C=0.761T=0.238
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.657T=0.342
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=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
rs101418116.01E-05alcohol consumption23743675

eQTL of rs10141811 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 rs10141811 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 )
chr145773227857732427E0671530
chr145773245857732577E0671710
chr145773286157733116E0672113
chr145773317257733273E0672424
chr145773352257733779E0672774
chr145773391657733990E0673168
chr145773866557738723E0677917
chr145771797557718025E068-12723
chr145773352257733779E0682774
chr145773391657733990E0683168
chr145773792357737971E0687175
chr145773807557738166E0687327
chr145772167257721873E069-8875
chr145772213357722183E069-8565
chr145773792357737971E0697175
chr145773227857732427E0701530
chr145773245857732577E0701710
chr145773792357737971E0707175
chr145773807557738166E0707327
chr145771797557718025E071-12723
chr145772167257721873E071-8875
chr145772213357722183E071-8565
chr145773227857732427E0711530
chr145773245857732577E0711710
chr145773286157733116E0712113
chr145773317257733273E0712424
chr145773352257733779E0712774
chr145773792357737971E0717175
chr145773807557738166E0717327
chr145772167257721873E072-8875
chr145772213357722183E072-8565
chr145773391657733990E0723168
chr145773792357737971E0727175
chr145773792357737971E0737175
chr145773807557738166E0737327
chr145772167257721873E074-8875
chr145772213357722183E074-8565
chr145772312357723173E074-7575
chr145772331857723368E074-7380
chr145773286157733116E0742113
chr145773317257733273E0742424
chr145773391657733990E0743168
chr145773792357737971E0747175
chr145773807557738166E0747327
chr145773286157733116E0812113
chr145773317257733273E0812424
chr145773352257733779E0812774
chr145773391657733990E0813168
chr145773792357737971E0817175
chr145773807557738166E0817327









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E0673806
chr145773474057736585E0673992
chr145773674957736822E0676001
chr145773694557736999E0676197
chr145773455457734668E0683806
chr145773474057736585E0683992
chr145773674957736822E0686001
chr145773694557736999E0686197
chr145773455457734668E0693806
chr145773474057736585E0693992
chr145773674957736822E0696001
chr145773694557736999E0696197
chr145773455457734668E0703806
chr145773474057736585E0703992
chr145773674957736822E0706001
chr145773694557736999E0706197
chr145773455457734668E0713806
chr145773474057736585E0713992
chr145773674957736822E0716001
chr145773694557736999E0716197
chr145773474057736585E0723992
chr145773674957736822E0726001
chr145773694557736999E0726197
chr145773455457734668E0733806
chr145773474057736585E0733992
chr145773674957736822E0736001
chr145773694557736999E0736197
chr145773455457734668E0743806
chr145773474057736585E0743992
chr145773455457734668E0813806
chr145773474057736585E0813992
chr145773455457734668E0823806
chr145773474057736585E0823992
chr145773674957736822E0826001
chr145773694557736999E0826197