rs11846972

Homo sapiens
A>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0313 (9371/29914,GnomAD)
T=0416 (12126/29118,TOPMED)
T=0322 (1615/5008,1000G)
T=0138 (532/3854,ALSPAC)
T=0152 (562/3708,TWINSUK)
chr14:57222138 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
54 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57222138A>T
GRCh37.p13 chr 14NC_000014.8:g.57688856A>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
1000GenomesAfricanSub1322A=0.113T=0.887
1000GenomesAmericanSub694A=0.870T=0.130
1000GenomesEast AsianSub1008A=0.886T=0.114
1000GenomesEuropeSub1006A=0.881T=0.119
1000GenomesGlobalStudy-wide5008A=0.678T=0.322
1000GenomesSouth AsianSub978A=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.862T=0.138
The Genome Aggregation DatabaseAfricanSub8700A=0.239T=0.761
The Genome Aggregation DatabaseAmericanSub838A=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1610A=0.858T=0.142
The Genome Aggregation DatabaseEuropeSub18464A=0.870T=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.686T=0.313
The Genome Aggregation DatabaseOtherSub302A=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.583T=0.416
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.848T=0.152
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
rs118469723.59E-05alcohol consumption23743675

eQTL of rs11846972 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 rs11846972 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 )
chr145773227857732427E06743422
chr145773245857732577E06743602
chr145773286157733116E06744005
chr145773317257733273E06744316
chr145773352257733779E06744666
chr145773391657733990E06745060
chr145773866557738723E06749809
chr145771797557718025E06829119
chr145773352257733779E06844666
chr145773391657733990E06845060
chr145773792357737971E06849067
chr145773807557738166E06849219
chr145772167257721873E06932816
chr145772213357722183E06933277
chr145773792357737971E06949067
chr145773227857732427E07043422
chr145773245857732577E07043602
chr145773792357737971E07049067
chr145773807557738166E07049219
chr145771797557718025E07129119
chr145772167257721873E07132816
chr145772213357722183E07133277
chr145773227857732427E07143422
chr145773245857732577E07143602
chr145773286157733116E07144005
chr145773317257733273E07144316
chr145773352257733779E07144666
chr145773792357737971E07149067
chr145773807557738166E07149219
chr145772167257721873E07232816
chr145772213357722183E07233277
chr145773391657733990E07245060
chr145773792357737971E07249067
chr145773792357737971E07349067
chr145773807557738166E07349219
chr145772167257721873E07432816
chr145772213357722183E07433277
chr145772312357723173E07434267
chr145772331857723368E07434462
chr145773286157733116E07444005
chr145773317257733273E07444316
chr145773391657733990E07445060
chr145773792357737971E07449067
chr145773807557738166E07449219
chr145764085457640986E081-47870
chr145764112257641684E081-47172
chr145764209457642148E081-46708
chr145764228557642434E081-46422
chr145773286157733116E08144005
chr145773317257733273E08144316
chr145773352257733779E08144666
chr145773391657733990E08145060
chr145773792357737971E08149067
chr145773807557738166E08149219









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E06745698
chr145773474057736585E06745884
chr145773674957736822E06747893
chr145773694557736999E06748089
chr145773455457734668E06845698
chr145773474057736585E06845884
chr145773674957736822E06847893
chr145773694557736999E06848089
chr145773455457734668E06945698
chr145773474057736585E06945884
chr145773674957736822E06947893
chr145773694557736999E06948089
chr145773455457734668E07045698
chr145773474057736585E07045884
chr145773674957736822E07047893
chr145773694557736999E07048089
chr145773455457734668E07145698
chr145773474057736585E07145884
chr145773674957736822E07147893
chr145773694557736999E07148089
chr145773474057736585E07245884
chr145773674957736822E07247893
chr145773694557736999E07248089
chr145773455457734668E07345698
chr145773474057736585E07345884
chr145773674957736822E07347893
chr145773694557736999E07348089
chr145773455457734668E07445698
chr145773474057736585E07445884
chr145773455457734668E08145698
chr145773474057736585E08145884
chr145773455457734668E08245698
chr145773474057736585E08245884
chr145773674957736822E08247893
chr145773694557736999E08248089