rs3742578

Homo sapiens
C>T
EXOC5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0301 (9002/29880,GnomAD)
T=0399 (11644/29118,TOPMED)
T=0167 (2368/14128,ExAC)
T=0310 (1553/5008,1000G)
T=0138 (530/3854,ALSPAC)
T=0151 (560/3708,TWINSUK)
chr14:57205997 (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.57205997C>T
GRCh37.p13 chr 14NC_000014.8:g.57672715C>T

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
1000GenomesAfricanSub1322C=0.156T=0.844
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.886T=0.114
1000GenomesEuropeSub1006C=0.881T=0.119
1000GenomesGlobalStudy-wide5008C=0.690T=0.310
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.862T=0.138
The Exome Aggregation ConsortiumAmericanSub736C=0.430T=0.570
The Exome Aggregation ConsortiumAsianSub7800C=0.848T=0.152
The Exome Aggregation ConsortiumEuropeSub5408C=0.865T=0.135
The Exome Aggregation ConsortiumGlobalStudy-wide14128C=0.832T=0.167
The Exome Aggregation ConsortiumOtherSub184C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.600T=0.399
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.849T=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
rs37425783.18E-05alcohol consumption23743675

eQTL of rs3742578 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 rs3742578 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 )
chr145771797557718025E06845260
chr145772167257721873E06948957
chr145772213357722183E06949418
chr145771797557718025E07145260
chr145772167257721873E07148957
chr145772213357722183E07149418
chr145772167257721873E07248957
chr145772213357722183E07249418
chr145772167257721873E07448957
chr145772213357722183E07449418
chr145764085457640986E081-31729
chr145764112257641684E081-31031
chr145764209457642148E081-30567
chr145764228557642434E081-30281