rs10147790

Homo sapiens
T>A
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0240 (7197/29882,GnomAD)
A=0351 (10220/29118,TOPMED)
A=0278 (1391/5008,1000G)
A=0056 (217/3854,ALSPAC)
A=0059 (218/3708,TWINSUK)
chr14:57226318 (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.57226318T>A
GRCh37.p13 chr 14NC_000014.8:g.57693036T>A

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
1000GenomesAfricanSub1322T=0.161A=0.839
1000GenomesAmericanSub694T=0.900A=0.100
1000GenomesEast AsianSub1008T=0.913A=0.087
1000GenomesEuropeSub1006T=0.942A=0.058
1000GenomesGlobalStudy-wide5008T=0.722A=0.278
1000GenomesSouth AsianSub978T=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.944A=0.056
The Genome Aggregation DatabaseAfricanSub8640T=0.296A=0.704
The Genome Aggregation DatabaseAmericanSub838T=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1614T=0.899A=0.101
The Genome Aggregation DatabaseEuropeSub18488T=0.954A=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.759A=0.240
The Genome Aggregation DatabaseOtherSub302T=0.880A=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.649A=0.351
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.941A=0.059
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
rs101477908.53E-05alcohol consumption23743675

eQTL of rs10147790 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 rs10147790 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 )
chr145773227857732427E06739242
chr145773245857732577E06739422
chr145773286157733116E06739825
chr145773317257733273E06740136
chr145773352257733779E06740486
chr145773391657733990E06740880
chr145773866557738723E06745629
chr145771797557718025E06824939
chr145773352257733779E06840486
chr145773391657733990E06840880
chr145773792357737971E06844887
chr145773807557738166E06845039
chr145772167257721873E06928636
chr145772213357722183E06929097
chr145773792357737971E06944887
chr145773227857732427E07039242
chr145773245857732577E07039422
chr145773792357737971E07044887
chr145773807557738166E07045039
chr145771797557718025E07124939
chr145772167257721873E07128636
chr145772213357722183E07129097
chr145773227857732427E07139242
chr145773245857732577E07139422
chr145773286157733116E07139825
chr145773317257733273E07140136
chr145773352257733779E07140486
chr145773792357737971E07144887
chr145773807557738166E07145039
chr145772167257721873E07228636
chr145772213357722183E07229097
chr145773391657733990E07240880
chr145773792357737971E07244887
chr145773792357737971E07344887
chr145773807557738166E07345039
chr145772167257721873E07428636
chr145772213357722183E07429097
chr145772312357723173E07430087
chr145772331857723368E07430282
chr145773286157733116E07439825
chr145773317257733273E07440136
chr145773391657733990E07440880
chr145773792357737971E07444887
chr145773807557738166E07445039
chr145773286157733116E08139825
chr145773317257733273E08140136
chr145773352257733779E08140486
chr145773391657733990E08140880
chr145773792357737971E08144887
chr145773807557738166E08145039









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E06741518
chr145773474057736585E06741704
chr145773674957736822E06743713
chr145773694557736999E06743909
chr145773455457734668E06841518
chr145773474057736585E06841704
chr145773674957736822E06843713
chr145773694557736999E06843909
chr145773455457734668E06941518
chr145773474057736585E06941704
chr145773674957736822E06943713
chr145773694557736999E06943909
chr145773455457734668E07041518
chr145773474057736585E07041704
chr145773674957736822E07043713
chr145773694557736999E07043909
chr145773455457734668E07141518
chr145773474057736585E07141704
chr145773674957736822E07143713
chr145773694557736999E07143909
chr145773474057736585E07241704
chr145773674957736822E07243713
chr145773694557736999E07243909
chr145773455457734668E07341518
chr145773474057736585E07341704
chr145773674957736822E07343713
chr145773694557736999E07343909
chr145773455457734668E07441518
chr145773474057736585E07441704
chr145773455457734668E08141518
chr145773474057736585E08141704
chr145773455457734668E08241518
chr145773474057736585E08241704
chr145773674957736822E08243713
chr145773694557736999E08243909