rs6573140

Homo sapiens
T>G
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0238 (7128/29934,GnomAD)
G=0343 (10008/29118,TOPMED)
G=0274 (1374/5008,1000G)
G=0059 (227/3854,ALSPAC)
G=0059 (220/3708,TWINSUK)
chr14:57266276 (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.57266276T>G
GRCh37.p13 chr 14NC_000014.8:g.57732994T>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
1000GenomesAfricanSub1322T=0.172G=0.828
1000GenomesAmericanSub694T=0.900G=0.100
1000GenomesEast AsianSub1008T=0.914G=0.086
1000GenomesEuropeSub1006T=0.942G=0.058
1000GenomesGlobalStudy-wide5008T=0.726G=0.274
1000GenomesSouth AsianSub978T=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.941G=0.059
The Genome Aggregation DatabaseAfricanSub8690T=0.307G=0.693
The Genome Aggregation DatabaseAmericanSub838T=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1620T=0.902G=0.098
The Genome Aggregation DatabaseEuropeSub18486T=0.954G=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.761G=0.238
The Genome Aggregation DatabaseOtherSub300T=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.656G=0.343
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.941G=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
rs65731404.73E-05alcohol consumption23743675

eQTL of rs6573140 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 rs6573140 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 )
chr145773227857732427E067-567
chr145773245857732577E067-417
chr145773286157733116E0670
chr145773317257733273E067178
chr145773352257733779E067528
chr145773391657733990E067922
chr145773866557738723E0675671
chr145771797557718025E068-14969
chr145773352257733779E068528
chr145773391657733990E068922
chr145773792357737971E0684929
chr145773807557738166E0685081
chr145772167257721873E069-11121
chr145772213357722183E069-10811
chr145773792357737971E0694929
chr145773227857732427E070-567
chr145773245857732577E070-417
chr145773792357737971E0704929
chr145773807557738166E0705081
chr145771797557718025E071-14969
chr145772167257721873E071-11121
chr145772213357722183E071-10811
chr145773227857732427E071-567
chr145773245857732577E071-417
chr145773286157733116E0710
chr145773317257733273E071178
chr145773352257733779E071528
chr145773792357737971E0714929
chr145773807557738166E0715081
chr145772167257721873E072-11121
chr145772213357722183E072-10811
chr145773391657733990E072922
chr145773792357737971E0724929
chr145773792357737971E0734929
chr145773807557738166E0735081
chr145772167257721873E074-11121
chr145772213357722183E074-10811
chr145772312357723173E074-9821
chr145772331857723368E074-9626
chr145773286157733116E0740
chr145773317257733273E074178
chr145773391657733990E074922
chr145773792357737971E0744929
chr145773807557738166E0745081
chr145773286157733116E0810
chr145773317257733273E081178
chr145773352257733779E081528
chr145773391657733990E081922
chr145773792357737971E0814929
chr145773807557738166E0815081









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E0671560
chr145773474057736585E0671746
chr145773674957736822E0673755
chr145773694557736999E0673951
chr145773455457734668E0681560
chr145773474057736585E0681746
chr145773674957736822E0683755
chr145773694557736999E0683951
chr145773455457734668E0691560
chr145773474057736585E0691746
chr145773674957736822E0693755
chr145773694557736999E0693951
chr145773455457734668E0701560
chr145773474057736585E0701746
chr145773674957736822E0703755
chr145773694557736999E0703951
chr145773455457734668E0711560
chr145773474057736585E0711746
chr145773674957736822E0713755
chr145773694557736999E0713951
chr145773474057736585E0721746
chr145773674957736822E0723755
chr145773694557736999E0723951
chr145773455457734668E0731560
chr145773474057736585E0731746
chr145773674957736822E0733755
chr145773694557736999E0733951
chr145773455457734668E0741560
chr145773474057736585E0741746
chr145773455457734668E0811560
chr145773474057736585E0811746
chr145773455457734668E0821560
chr145773474057736585E0821746
chr145773674957736822E0823755
chr145773694557736999E0823951