rs4569162

Homo sapiens
T>C
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0301 (8974/29784,GnomAD)
C=0399 (11645/29118,TOPMED)
C=0312 (1560/5008,1000G)
C=0138 (532/3854,ALSPAC)
C=0152 (562/3708,TWINSUK)
chr14:57215062 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57215062T>C
GRCh37.p13 chr 14NC_000014.8:g.57681780T>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
1000GenomesAfricanSub1322T=0.154C=0.846
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.886C=0.114
1000GenomesEuropeSub1006T=0.881C=0.119
1000GenomesGlobalStudy-wide5008T=0.688C=0.312
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.862C=0.138
The Genome Aggregation DatabaseAfricanSub8648T=0.279C=0.721
The Genome Aggregation DatabaseAmericanSub828T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1620T=0.856C=0.144
The Genome Aggregation DatabaseEuropeSub18386T=0.871C=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29784T=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
rs45691624.72E-05alcohol consumption23743675

eQTL of rs4569162 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 rs4569162 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 )
chr145771797557718025E06836195
chr145772167257721873E06939892
chr145772213357722183E06940353
chr145771797557718025E07136195
chr145772167257721873E07139892
chr145772213357722183E07140353
chr145772167257721873E07239892
chr145772213357722183E07240353
chr145772167257721873E07439892
chr145772213357722183E07440353
chr145772312357723173E07441343
chr145772331857723368E07441538
chr145764085457640986E081-40794
chr145764112257641684E081-40096
chr145764209457642148E081-39632
chr145764228557642434E081-39346