rs7147218

Homo sapiens
T>C / T>G
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0258 (7725/29936,GnomAD)
G=0371 (10819/29118,TOPMED)
G=0294 (1473/5008,1000G)
G=0059 (229/3854,ALSPAC)
G=0061 (226/3708,TWINSUK)
chr14:57255339 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57255339T>C
GRCh38.p7 chr 14NC_000014.9:g.57255339T>G
GRCh37.p13 chr 14NC_000014.8:g.57722057T>C
GRCh37.p13 chr 14NC_000014.8:g.57722057T>G

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=0.107C=0.000
1000GenomesAmericanSub694T=0.890C=0.00,
1000GenomesEast AsianSub1008T=0.913C=0.000
1000GenomesEuropeSub1006T=0.939C=0.000
1000GenomesGlobalStudy-wide5008T=0.705C=0.000
1000GenomesSouth AsianSub978T=0.930C=0.00,
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.941G=0.059
The Genome Aggregation DatabaseAfricanSub8700T=0.241G=0.759
The Genome Aggregation DatabaseAmericanSub838T=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1618T=0.899G=0.101
The Genome Aggregation DatabaseEuropeSub18478T=0.953G=0.046
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.741G=0.258
The Genome Aggregation DatabaseOtherSub302T=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.628G=0.371
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.939G=0.061
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
rs71472186.81E-05alcohol consumption23743675

eQTL of rs7147218 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 rs7147218 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.