rs10137379

Homo sapiens
T>C
EXOC5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0219 (6584/29944,GnomAD)
C=0278 (8117/29118,TOPMED)
C=0221 (1105/5008,1000G)
C=0136 (526/3854,ALSPAC)
C=0151 (561/3708,TWINSUK)
chr14:57208149 (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.57208149T>C
GRCh37.p13 chr 14NC_000014.8:g.57674867T>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=0.483C=0.517
1000GenomesAmericanSub694T=0.900C=0.100
1000GenomesEast AsianSub1008T=0.886C=0.114
1000GenomesEuropeSub1006T=0.882C=0.118
1000GenomesGlobalStudy-wide5008T=0.779C=0.221
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.864C=0.136
The Genome Aggregation DatabaseAfricanSub8718T=0.557C=0.443
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1616T=0.856C=0.144
The Genome Aggregation DatabaseEuropeSub18470T=0.871C=0.128
The Genome Aggregation DatabaseGlobalStudy-wide29944T=0.780C=0.219
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.721C=0.278
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=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
rs101373791.23E-05alcohol consumption23743675

eQTL of rs10137379 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 rs10137379 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 )
chr145771797557718025E06843108
chr145772167257721873E06946805
chr145772213357722183E06947266
chr145771797557718025E07143108
chr145772167257721873E07146805
chr145772213357722183E07147266
chr145772167257721873E07246805
chr145772213357722183E07247266
chr145772167257721873E07446805
chr145772213357722183E07447266
chr145772312357723173E07448256
chr145772331857723368E07448451
chr145764085457640986E081-33881
chr145764112257641684E081-33183
chr145764209457642148E081-32719
chr145764228557642434E081-32433