rs7155721

Homo sapiens
A>C
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0224 (6711/29892,GnomAD)
C=0287 (8378/29118,TOPMED)
C=0227 (1135/5008,1000G)
C=0138 (530/3854,ALSPAC)
C=0151 (560/3708,TWINSUK)
chr14:57230712 (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.57230712A>C
GRCh37.p13 chr 14NC_000014.8:g.57697430A>C

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=0.461C=0.539
1000GenomesAmericanSub694A=0.900C=0.100
1000GenomesEast AsianSub1008A=0.886C=0.114
1000GenomesEuropeSub1006A=0.882C=0.118
1000GenomesGlobalStudy-wide5008A=0.773C=0.227
1000GenomesSouth AsianSub978A=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.862C=0.138
The Genome Aggregation DatabaseAfricanSub8686A=0.541C=0.459
The Genome Aggregation DatabaseAmericanSub836A=0.900C=0.100
The Genome Aggregation DatabaseEast AsianSub1616A=0.856C=0.144
The Genome Aggregation DatabaseEuropeSub18452A=0.871C=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.775C=0.224
The Genome Aggregation DatabaseOtherSub302A=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.712C=0.287
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.849C=0.151
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
rs71557212.96E-05alcohol consumption23743675

eQTL of rs7155721 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 rs7155721 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 )
chr145773227857732427E06734848
chr145773245857732577E06735028
chr145773286157733116E06735431
chr145773317257733273E06735742
chr145773352257733779E06736092
chr145773391657733990E06736486
chr145773866557738723E06741235
chr145771797557718025E06820545
chr145773352257733779E06836092
chr145773391657733990E06836486
chr145773792357737971E06840493
chr145773807557738166E06840645
chr145772167257721873E06924242
chr145772213357722183E06924703
chr145773792357737971E06940493
chr145773227857732427E07034848
chr145773245857732577E07035028
chr145773792357737971E07040493
chr145773807557738166E07040645
chr145771797557718025E07120545
chr145772167257721873E07124242
chr145772213357722183E07124703
chr145773227857732427E07134848
chr145773245857732577E07135028
chr145773286157733116E07135431
chr145773317257733273E07135742
chr145773352257733779E07136092
chr145773792357737971E07140493
chr145773807557738166E07140645
chr145772167257721873E07224242
chr145772213357722183E07224703
chr145773391657733990E07236486
chr145773792357737971E07240493
chr145773792357737971E07340493
chr145773807557738166E07340645
chr145772167257721873E07424242
chr145772213357722183E07424703
chr145772312357723173E07425693
chr145772331857723368E07425888
chr145773286157733116E07435431
chr145773317257733273E07435742
chr145773391657733990E07436486
chr145773792357737971E07440493
chr145773807557738166E07440645
chr145773286157733116E08135431
chr145773317257733273E08135742
chr145773352257733779E08136092
chr145773391657733990E08136486
chr145773792357737971E08140493
chr145773807557738166E08140645









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E06737124
chr145773474057736585E06737310
chr145773674957736822E06739319
chr145773694557736999E06739515
chr145773455457734668E06837124
chr145773474057736585E06837310
chr145773674957736822E06839319
chr145773694557736999E06839515
chr145773455457734668E06937124
chr145773474057736585E06937310
chr145773674957736822E06939319
chr145773694557736999E06939515
chr145773455457734668E07037124
chr145773474057736585E07037310
chr145773674957736822E07039319
chr145773694557736999E07039515
chr145773455457734668E07137124
chr145773474057736585E07137310
chr145773674957736822E07139319
chr145773694557736999E07139515
chr145773474057736585E07237310
chr145773674957736822E07239319
chr145773694557736999E07239515
chr145773455457734668E07337124
chr145773474057736585E07337310
chr145773674957736822E07339319
chr145773694557736999E07339515
chr145773455457734668E07437124
chr145773474057736585E07437310
chr145773455457734668E08137124
chr145773474057736585E08137310
chr145773455457734668E08237124
chr145773474057736585E08237310
chr145773674957736822E08239319
chr145773694557736999E08239515