rs10135879

Homo sapiens
T>C
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0301 (9035/29942,GnomAD)
C=0399 (11645/29118,TOPMED)
C=0312 (1560/5008,1000G)
C=0138 (532/3854,ALSPAC)
C=0152 (564/3708,TWINSUK)
chr14:57217416 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57217416T>C
GRCh37.p13 chr 14NC_000014.8:g.57684134T>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 DatabaseAfricanSub8724T=0.279C=0.721
The Genome Aggregation DatabaseAmericanSub836T=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1620T=0.856C=0.144
The Genome Aggregation DatabaseEuropeSub18462T=0.871C=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29942T=0.698C=0.301
The Genome Aggregation DatabaseOtherSub300T=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
rs101358793.78E-05alcohol consumption23743675

eQTL of rs10135879 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 rs10135879 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 )
chr145773227857732427E06748144
chr145773245857732577E06748324
chr145773286157733116E06748727
chr145773317257733273E06749038
chr145773352257733779E06749388
chr145773391657733990E06749782
chr145771797557718025E06833841
chr145773352257733779E06849388
chr145773391657733990E06849782
chr145772167257721873E06937538
chr145772213357722183E06937999
chr145773227857732427E07048144
chr145773245857732577E07048324
chr145771797557718025E07133841
chr145772167257721873E07137538
chr145772213357722183E07137999
chr145773227857732427E07148144
chr145773245857732577E07148324
chr145773286157733116E07148727
chr145773317257733273E07149038
chr145773352257733779E07149388
chr145772167257721873E07237538
chr145772213357722183E07237999
chr145773391657733990E07249782
chr145772167257721873E07437538
chr145772213357722183E07437999
chr145772312357723173E07438989
chr145772331857723368E07439184
chr145773286157733116E07448727
chr145773317257733273E07449038
chr145773391657733990E07449782
chr145764085457640986E081-43148
chr145764112257641684E081-42450
chr145764209457642148E081-41986
chr145764228557642434E081-41700
chr145773286157733116E08148727
chr145773317257733273E08149038
chr145773352257733779E08149388
chr145773391657733990E08149782