rs10133300

Homo sapiens
G>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0242 (7253/29910,GnomAD)
T=0350 (10212/29118,TOPMED)
T=0278 (1391/5008,1000G)
T=0059 (226/3854,ALSPAC)
T=0060 (224/3708,TWINSUK)
chr14:57256175 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57256175G>T
GRCh37.p13 chr 14NC_000014.8:g.57722893G>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
1000GenomesAfricanSub1322G=0.161T=0.839
1000GenomesAmericanSub694G=0.900T=0.100
1000GenomesEast AsianSub1008G=0.914T=0.086
1000GenomesEuropeSub1006G=0.941T=0.059
1000GenomesGlobalStudy-wide5008G=0.722T=0.278
1000GenomesSouth AsianSub978G=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.941T=0.059
The Genome Aggregation DatabaseAfricanSub8678G=0.292T=0.708
The Genome Aggregation DatabaseAmericanSub838G=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1610G=0.899T=0.101
The Genome Aggregation DatabaseEuropeSub18482G=0.954T=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29910G=0.757T=0.242
The Genome Aggregation DatabaseOtherSub302G=0.880T=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.649T=0.350
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.940T=0.060
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
rs101333007.99E-05alcohol consumption23743675

eQTL of rs10133300 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 rs10133300 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 )
chr145773227857732427E0679385
chr145773245857732577E0679565
chr145773286157733116E0679968
chr145773317257733273E06710279
chr145773352257733779E06710629
chr145773391657733990E06711023
chr145773866557738723E06715772
chr145771797557718025E068-4868
chr145773352257733779E06810629
chr145773391657733990E06811023
chr145773792357737971E06815030
chr145773807557738166E06815182
chr145772167257721873E069-1020
chr145772213357722183E069-710
chr145773792357737971E06915030
chr145773227857732427E0709385
chr145773245857732577E0709565
chr145773792357737971E07015030
chr145773807557738166E07015182
chr145771797557718025E071-4868
chr145772167257721873E071-1020
chr145772213357722183E071-710
chr145773227857732427E0719385
chr145773245857732577E0719565
chr145773286157733116E0719968
chr145773317257733273E07110279
chr145773352257733779E07110629
chr145773792357737971E07115030
chr145773807557738166E07115182
chr145772167257721873E072-1020
chr145772213357722183E072-710
chr145773391657733990E07211023
chr145773792357737971E07215030
chr145773792357737971E07315030
chr145773807557738166E07315182
chr145772167257721873E074-1020
chr145772213357722183E074-710
chr145772312357723173E074230
chr145772331857723368E074425
chr145773286157733116E0749968
chr145773317257733273E07410279
chr145773391657733990E07411023
chr145773792357737971E07415030
chr145773807557738166E07415182
chr145773286157733116E0819968
chr145773317257733273E08110279
chr145773352257733779E08110629
chr145773391657733990E08111023
chr145773792357737971E08115030
chr145773807557738166E08115182









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E06711661
chr145773474057736585E06711847
chr145773674957736822E06713856
chr145773694557736999E06714052
chr145773455457734668E06811661
chr145773474057736585E06811847
chr145773674957736822E06813856
chr145773694557736999E06814052
chr145773455457734668E06911661
chr145773474057736585E06911847
chr145773674957736822E06913856
chr145773694557736999E06914052
chr145773455457734668E07011661
chr145773474057736585E07011847
chr145773674957736822E07013856
chr145773694557736999E07014052
chr145773455457734668E07111661
chr145773474057736585E07111847
chr145773674957736822E07113856
chr145773694557736999E07114052
chr145773474057736585E07211847
chr145773674957736822E07213856
chr145773694557736999E07214052
chr145773455457734668E07311661
chr145773474057736585E07311847
chr145773674957736822E07313856
chr145773694557736999E07314052
chr145773455457734668E07411661
chr145773474057736585E07411847
chr145773455457734668E08111661
chr145773474057736585E08111847
chr145773455457734668E08211661
chr145773474057736585E08211847
chr145773674957736822E08213856
chr145773694557736999E08214052