rs3742577

Homo sapiens
T>C
EXOC5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0301 (8997/29862,GnomAD)
C=0399 (11644/29118,TOPMED)
C=0169 (2386/14100,ExAC)
C=0311 (1557/5008,1000G)
C=0138 (530/3854,ALSPAC)
C=0152 (564/3708,TWINSUK)
chr14:57205822 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57205822T>C
GRCh37.p13 chr 14NC_000014.8:g.57672540T>C

Gene: EXOC5, exocyst complex component 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EXOC5 transcriptNM_006544.3:c.N/A3 Prime UTR Variant
EXOC5 transcript variant X1XM_005267272.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.155C=0.845
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.886C=0.114
1000GenomesEuropeSub1006T=0.881C=0.119
1000GenomesGlobalStudy-wide5008T=0.689C=0.311
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.862C=0.138
The Exome Aggregation ConsortiumAmericanSub736T=0.430C=0.570
The Exome Aggregation ConsortiumAsianSub7812T=0.845C=0.155
The Exome Aggregation ConsortiumEuropeSub5370T=0.864C=0.136
The Exome Aggregation ConsortiumGlobalStudy-wide14100T=0.830C=0.169
The Exome Aggregation ConsortiumOtherSub182T=0.860C=0.140
The Genome Aggregation DatabaseAfricanSub8696T=0.280C=0.720
The Genome Aggregation DatabaseAmericanSub834T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1608T=0.857C=0.143
The Genome Aggregation DatabaseEuropeSub18422T=0.871C=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29862T=0.698C=0.301
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.600C=0.399
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.848C=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
rs37425776.19E-05alcohol consumption23743675

eQTL of rs3742577 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 rs3742577 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 )
chr145771797557718025E06845435
chr145772167257721873E06949132
chr145772213357722183E06949593
chr145771797557718025E07145435
chr145772167257721873E07149132
chr145772213357722183E07149593
chr145772167257721873E07249132
chr145772213357722183E07249593
chr145772167257721873E07449132
chr145772213357722183E07449593
chr145764085457640986E081-31554
chr145764112257641684E081-30856
chr145764209457642148E081-30392
chr145764228557642434E081-30106