rs10141911

Homo sapiens
C>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0228 (6853/29948,GnomAD)
T=0328 (9557/29118,TOPMED)
T=0262 (1314/5008,1000G)
T=0059 (227/3854,ALSPAC)
T=0061 (227/3708,TWINSUK)
chr14:57264133 (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.57264133C>T
GRCh37.p13 chr 14NC_000014.8:g.57730851C>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=0.212T=0.788
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.916T=0.084
1000GenomesEuropeSub1006C=0.943T=0.057
1000GenomesGlobalStudy-wide5008C=0.738T=0.262
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 DatabaseAfricanSub8698C=0.339T=0.661
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.904T=0.096
The Genome Aggregation DatabaseEuropeSub18490C=0.954T=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29948C=0.771T=0.228
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.671T=0.328
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
rs101419113.71E-05alcohol consumption23743675

eQTL of rs10141911 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 rs10141911 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 )
chr145773227857732427E0671427
chr145773245857732577E0671607
chr145773286157733116E0672010
chr145773317257733273E0672321
chr145773352257733779E0672671
chr145773391657733990E0673065
chr145773866557738723E0677814
chr145771797557718025E068-12826
chr145773352257733779E0682671
chr145773391657733990E0683065
chr145773792357737971E0687072
chr145773807557738166E0687224
chr145772167257721873E069-8978
chr145772213357722183E069-8668
chr145773792357737971E0697072
chr145773227857732427E0701427
chr145773245857732577E0701607
chr145773792357737971E0707072
chr145773807557738166E0707224
chr145771797557718025E071-12826
chr145772167257721873E071-8978
chr145772213357722183E071-8668
chr145773227857732427E0711427
chr145773245857732577E0711607
chr145773286157733116E0712010
chr145773317257733273E0712321
chr145773352257733779E0712671
chr145773792357737971E0717072
chr145773807557738166E0717224
chr145772167257721873E072-8978
chr145772213357722183E072-8668
chr145773391657733990E0723065
chr145773792357737971E0727072
chr145773792357737971E0737072
chr145773807557738166E0737224
chr145772167257721873E074-8978
chr145772213357722183E074-8668
chr145772312357723173E074-7678
chr145772331857723368E074-7483
chr145773286157733116E0742010
chr145773317257733273E0742321
chr145773391657733990E0743065
chr145773792357737971E0747072
chr145773807557738166E0747224
chr145773286157733116E0812010
chr145773317257733273E0812321
chr145773352257733779E0812671
chr145773391657733990E0813065
chr145773792357737971E0817072
chr145773807557738166E0817224









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E0673703
chr145773474057736585E0673889
chr145773674957736822E0675898
chr145773694557736999E0676094
chr145773455457734668E0683703
chr145773474057736585E0683889
chr145773674957736822E0685898
chr145773694557736999E0686094
chr145773455457734668E0693703
chr145773474057736585E0693889
chr145773674957736822E0695898
chr145773694557736999E0696094
chr145773455457734668E0703703
chr145773474057736585E0703889
chr145773674957736822E0705898
chr145773694557736999E0706094
chr145773455457734668E0713703
chr145773474057736585E0713889
chr145773674957736822E0715898
chr145773694557736999E0716094
chr145773474057736585E0723889
chr145773674957736822E0725898
chr145773694557736999E0726094
chr145773455457734668E0733703
chr145773474057736585E0733889
chr145773674957736822E0735898
chr145773694557736999E0736094
chr145773455457734668E0743703
chr145773474057736585E0743889
chr145773455457734668E0813703
chr145773474057736585E0813889
chr145773455457734668E0823703
chr145773474057736585E0823889
chr145773674957736822E0825898
chr145773694557736999E0826094