rs10130359

Homo sapiens
C>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0166 (4984/29868,GnomAD)
T=0238 (6942/29118,TOPMED)
T=0193 (969/5008,1000G)
T=0058 (225/3854,ALSPAC)
T=0060 (224/3708,TWINSUK)
chr14:57249675 (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.57249675C>T
GRCh37.p13 chr 14NC_000014.8:g.57716393C>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=0.465T=0.535
1000GenomesAmericanSub694C=0.930T=0.070
1000GenomesEast AsianSub1008C=0.914T=0.086
1000GenomesEuropeSub1006C=0.944T=0.056
1000GenomesGlobalStudy-wide5008C=0.807T=0.193
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.942T=0.058
The Genome Aggregation DatabaseAfricanSub8686C=0.552T=0.448
The Genome Aggregation DatabaseAmericanSub836C=0.930T=0.070
The Genome Aggregation DatabaseEast AsianSub1612C=0.900T=0.100
The Genome Aggregation DatabaseEuropeSub18432C=0.954T=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29868C=0.833T=0.166
The Genome Aggregation DatabaseOtherSub302C=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.761T=0.238
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
rs101303598.65E-05alcohol consumption23743675

eQTL of rs10130359 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 rs10130359 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 )
chr145773227857732427E06715885
chr145773245857732577E06716065
chr145773286157733116E06716468
chr145773317257733273E06716779
chr145773352257733779E06717129
chr145773391657733990E06717523
chr145773866557738723E06722272
chr145771797557718025E0681582
chr145773352257733779E06817129
chr145773391657733990E06817523
chr145773792357737971E06821530
chr145773807557738166E06821682
chr145772167257721873E0695279
chr145772213357722183E0695740
chr145773792357737971E06921530
chr145773227857732427E07015885
chr145773245857732577E07016065
chr145773792357737971E07021530
chr145773807557738166E07021682
chr145771797557718025E0711582
chr145772167257721873E0715279
chr145772213357722183E0715740
chr145773227857732427E07115885
chr145773245857732577E07116065
chr145773286157733116E07116468
chr145773317257733273E07116779
chr145773352257733779E07117129
chr145773792357737971E07121530
chr145773807557738166E07121682
chr145772167257721873E0725279
chr145772213357722183E0725740
chr145773391657733990E07217523
chr145773792357737971E07221530
chr145773792357737971E07321530
chr145773807557738166E07321682
chr145772167257721873E0745279
chr145772213357722183E0745740
chr145772312357723173E0746730
chr145772331857723368E0746925
chr145773286157733116E07416468
chr145773317257733273E07416779
chr145773391657733990E07417523
chr145773792357737971E07421530
chr145773807557738166E07421682
chr145773286157733116E08116468
chr145773317257733273E08116779
chr145773352257733779E08117129
chr145773391657733990E08117523
chr145773792357737971E08121530
chr145773807557738166E08121682









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E06718161
chr145773474057736585E06718347
chr145773674957736822E06720356
chr145773694557736999E06720552
chr145773455457734668E06818161
chr145773474057736585E06818347
chr145773674957736822E06820356
chr145773694557736999E06820552
chr145773455457734668E06918161
chr145773474057736585E06918347
chr145773674957736822E06920356
chr145773694557736999E06920552
chr145773455457734668E07018161
chr145773474057736585E07018347
chr145773674957736822E07020356
chr145773694557736999E07020552
chr145773455457734668E07118161
chr145773474057736585E07118347
chr145773674957736822E07120356
chr145773694557736999E07120552
chr145773474057736585E07218347
chr145773674957736822E07220356
chr145773694557736999E07220552
chr145773455457734668E07318161
chr145773474057736585E07318347
chr145773674957736822E07320356
chr145773694557736999E07320552
chr145773455457734668E07418161
chr145773474057736585E07418347
chr145773455457734668E08118161
chr145773474057736585E08118347
chr145773455457734668E08218161
chr145773474057736585E08218347
chr145773674957736822E08220356
chr145773694557736999E08220552