rs10147752

Homo sapiens
A>G
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0258 (7713/29894,GnomAD)
G=0371 (10808/29118,TOPMED)
G=0292 (1464/5008,1000G)
G=0059 (228/3854,ALSPAC)
G=0060 (224/3708,TWINSUK)
chr14:57265552 (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.57265552A>G
GRCh37.p13 chr 14NC_000014.8:g.57732270A>G

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
1000GenomesAfricanSub1322A=0.108G=0.892
1000GenomesAmericanSub694A=0.890G=0.110
1000GenomesEast AsianSub1008A=0.914G=0.086
1000GenomesEuropeSub1006A=0.942G=0.058
1000GenomesGlobalStudy-wide5008A=0.708G=0.292
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.941G=0.059
The Genome Aggregation DatabaseAfricanSub8700A=0.241G=0.759
The Genome Aggregation DatabaseAmericanSub834A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1622A=0.901G=0.099
The Genome Aggregation DatabaseEuropeSub18436A=0.953G=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29894A=0.742G=0.258
The Genome Aggregation DatabaseOtherSub302A=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.628G=0.371
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.940G=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
rs101477524.3E-05alcohol consumption23743675

eQTL of rs10147752 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 rs10147752 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 )
chr145773227857732427E0678
chr145773245857732577E067188
chr145773286157733116E067591
chr145773317257733273E067902
chr145773352257733779E0671252
chr145773391657733990E0671646
chr145773866557738723E0676395
chr145771797557718025E068-14245
chr145773352257733779E0681252
chr145773391657733990E0681646
chr145773792357737971E0685653
chr145773807557738166E0685805
chr145772167257721873E069-10397
chr145772213357722183E069-10087
chr145773792357737971E0695653
chr145773227857732427E0708
chr145773245857732577E070188
chr145773792357737971E0705653
chr145773807557738166E0705805
chr145771797557718025E071-14245
chr145772167257721873E071-10397
chr145772213357722183E071-10087
chr145773227857732427E0718
chr145773245857732577E071188
chr145773286157733116E071591
chr145773317257733273E071902
chr145773352257733779E0711252
chr145773792357737971E0715653
chr145773807557738166E0715805
chr145772167257721873E072-10397
chr145772213357722183E072-10087
chr145773391657733990E0721646
chr145773792357737971E0725653
chr145773792357737971E0735653
chr145773807557738166E0735805
chr145772167257721873E074-10397
chr145772213357722183E074-10087
chr145772312357723173E074-9097
chr145772331857723368E074-8902
chr145773286157733116E074591
chr145773317257733273E074902
chr145773391657733990E0741646
chr145773792357737971E0745653
chr145773807557738166E0745805
chr145773286157733116E081591
chr145773317257733273E081902
chr145773352257733779E0811252
chr145773391657733990E0811646
chr145773792357737971E0815653
chr145773807557738166E0815805









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E0672284
chr145773474057736585E0672470
chr145773674957736822E0674479
chr145773694557736999E0674675
chr145773455457734668E0682284
chr145773474057736585E0682470
chr145773674957736822E0684479
chr145773694557736999E0684675
chr145773455457734668E0692284
chr145773474057736585E0692470
chr145773674957736822E0694479
chr145773694557736999E0694675
chr145773455457734668E0702284
chr145773474057736585E0702470
chr145773674957736822E0704479
chr145773694557736999E0704675
chr145773455457734668E0712284
chr145773474057736585E0712470
chr145773674957736822E0714479
chr145773694557736999E0714675
chr145773474057736585E0722470
chr145773674957736822E0724479
chr145773694557736999E0724675
chr145773455457734668E0732284
chr145773474057736585E0732470
chr145773674957736822E0734479
chr145773694557736999E0734675
chr145773455457734668E0742284
chr145773474057736585E0742470
chr145773455457734668E0812284
chr145773474057736585E0812470
chr145773455457734668E0822284
chr145773474057736585E0822470
chr145773674957736822E0824479
chr145773694557736999E0824675