rs17093036

Homo sapiens
C>G
EXOC5 : Intron Variant
AP5M1 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0232 (6961/29926,GnomAD)
G=0335 (9766/29118,TOPMED)
G=0269 (1349/5008,1000G)
G=0059 (228/3854,ALSPAC)
G=0060 (224/3708,TWINSUK)
chr14:57267302 (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.57267302C>G
GRCh37.p13 chr 14NC_000014.8:g.57734020C>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

Gene: AP5M1, adaptor related protein complex 5 mu 1 subunit(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
AP5M1 transcript variant 1NM_018229.3:c.N/AUpstream Transcript Variant
AP5M1 transcript variant 2NR_026895.1:n.N/AUpstream Transcript Variant
AP5M1 transcript variant X2XM_006720196.2:c.N/AUpstream Transcript Variant
AP5M1 transcript variant X1XM_011536940.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.191G=0.809
1000GenomesAmericanSub694C=0.900G=0.100
1000GenomesEast AsianSub1008C=0.914G=0.086
1000GenomesEuropeSub1006C=0.942G=0.058
1000GenomesGlobalStudy-wide5008C=0.731G=0.269
1000GenomesSouth AsianSub978C=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.941G=0.059
The Genome Aggregation DatabaseAfricanSub8700C=0.327G=0.673
The Genome Aggregation DatabaseAmericanSub836C=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1612C=0.898G=0.102
The Genome Aggregation DatabaseEuropeSub18476C=0.954G=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.767G=0.232
The Genome Aggregation DatabaseOtherSub302C=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.664G=0.335
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=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
rs170930367.16E-05alcohol consumption23743675

eQTL of rs17093036 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 rs17093036 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 )
chr145773227857732427E067-1593
chr145773245857732577E067-1443
chr145773286157733116E067-904
chr145773317257733273E067-747
chr145773352257733779E067-241
chr145773391657733990E067-30
chr145773866557738723E0674645
chr145771797557718025E068-15995
chr145773352257733779E068-241
chr145773391657733990E068-30
chr145773792357737971E0683903
chr145773807557738166E0684055
chr145772167257721873E069-12147
chr145772213357722183E069-11837
chr145773792357737971E0693903
chr145773227857732427E070-1593
chr145773245857732577E070-1443
chr145773792357737971E0703903
chr145773807557738166E0704055
chr145771797557718025E071-15995
chr145772167257721873E071-12147
chr145772213357722183E071-11837
chr145773227857732427E071-1593
chr145773245857732577E071-1443
chr145773286157733116E071-904
chr145773317257733273E071-747
chr145773352257733779E071-241
chr145773792357737971E0713903
chr145773807557738166E0714055
chr145772167257721873E072-12147
chr145772213357722183E072-11837
chr145773391657733990E072-30
chr145773792357737971E0723903
chr145773792357737971E0733903
chr145773807557738166E0734055
chr145772167257721873E074-12147
chr145772213357722183E074-11837
chr145772312357723173E074-10847
chr145772331857723368E074-10652
chr145773286157733116E074-904
chr145773317257733273E074-747
chr145773391657733990E074-30
chr145773792357737971E0743903
chr145773807557738166E0744055
chr145773286157733116E081-904
chr145773317257733273E081-747
chr145773352257733779E081-241
chr145773391657733990E081-30
chr145773792357737971E0813903
chr145773807557738166E0814055









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E067534
chr145773474057736585E067720
chr145773674957736822E0672729
chr145773694557736999E0672925
chr145773455457734668E068534
chr145773474057736585E068720
chr145773674957736822E0682729
chr145773694557736999E0682925
chr145773455457734668E069534
chr145773474057736585E069720
chr145773674957736822E0692729
chr145773694557736999E0692925
chr145773455457734668E070534
chr145773474057736585E070720
chr145773674957736822E0702729
chr145773694557736999E0702925
chr145773455457734668E071534
chr145773474057736585E071720
chr145773674957736822E0712729
chr145773694557736999E0712925
chr145773474057736585E072720
chr145773674957736822E0722729
chr145773694557736999E0722925
chr145773455457734668E073534
chr145773474057736585E073720
chr145773674957736822E0732729
chr145773694557736999E0732925
chr145773455457734668E074534
chr145773474057736585E074720
chr145773455457734668E081534
chr145773474057736585E081720
chr145773455457734668E082534
chr145773474057736585E082720
chr145773674957736822E0822729
chr145773694557736999E0822925