rs10140993

Homo sapiens
C>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0300 (8990/29962,GnomAD)
T=0398 (11614/29118,TOPMED)
T=0311 (1556/5008,1000G)
T=0135 (521/3854,ALSPAC)
T=0150 (556/3708,TWINSUK)
chr14:57212739 (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.57212739C>T
GRCh37.p13 chr 14NC_000014.8:g.57679457C>T

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
1000GenomesAfricanSub1322C=0.154T=0.846
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.886T=0.114
1000GenomesEuropeSub1006C=0.881T=0.119
1000GenomesGlobalStudy-wide5008C=0.689T=0.311
1000GenomesSouth AsianSub978C=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.865T=0.135
The Genome Aggregation DatabaseAfricanSub8716C=0.280T=0.720
The Genome Aggregation DatabaseAmericanSub838C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1620C=0.856T=0.144
The Genome Aggregation DatabaseEuropeSub18486C=0.873T=0.126
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.700T=0.300
The Genome Aggregation DatabaseOtherSub302C=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.601T=0.398
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.850T=0.150
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
rs101409934.16E-05alcohol consumption23743675

eQTL of rs10140993 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 rs10140993 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 )
chr145771797557718025E06838518
chr145772167257721873E06942215
chr145772213357722183E06942676
chr145771797557718025E07138518
chr145772167257721873E07142215
chr145772213357722183E07142676
chr145772167257721873E07242215
chr145772213357722183E07242676
chr145772167257721873E07442215
chr145772213357722183E07442676
chr145772312357723173E07443666
chr145772331857723368E07443861
chr145764085457640986E081-38471
chr145764112257641684E081-37773
chr145764209457642148E081-37309
chr145764228557642434E081-37023