rs9323304

Homo sapiens
A>C / A>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0254 (7622/29930,GnomAD)
C=0367 (10698/29118,TOPMED)
C=0291 (1455/5008,1000G)
C=0058 (225/3854,ALSPAC)
C=0061 (225/3708,TWINSUK)
chr14:57245764 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
47 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57245764A>C
GRCh38.p7 chr 14NC_000014.9:g.57245764A>T
GRCh37.p13 chr 14NC_000014.8:g.57712482A>C
GRCh37.p13 chr 14NC_000014.8:g.57712482A>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
1000GenomesAfricanSub1322A=0.116C=0.884
1000GenomesAmericanSub694A=0.890C=0.110
1000GenomesEast AsianSub1008A=0.914C=0.086
1000GenomesEuropeSub1006A=0.941C=0.059
1000GenomesGlobalStudy-wide5008A=0.709C=0.291
1000GenomesSouth AsianSub978A=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.942C=0.058
The Genome Aggregation DatabaseAfricanSub8702A=0.252T=0.000
The Genome Aggregation DatabaseAmericanSub836A=0.920T=0.00,
The Genome Aggregation DatabaseEast AsianSub1618A=0.900T=0.000
The Genome Aggregation DatabaseEuropeSub18472A=0.953T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29930A=0.745T=0.000
The Genome Aggregation DatabaseOtherSub302A=0.880T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.632C=0.367
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.939C=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
rs93233048.78E-05alcohol consumption23743675

eQTL of rs9323304 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 rs9323304 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 )
chr142968683229687340E06840912
chr142968737529687573E06841455
chr142965782229657872E07011902
chr142968436029684418E07038440
chr142968446229684580E07038542
chr142968467429684952E07038754
chr142968508329686537E07039163
chr142968683229687340E07040912
chr142968737529687573E07041455
chr142968901629689066E07043096
chr142968911629689338E07043196
chr142969311229694459E07047192
chr142963124729631349E081-14571
chr142963146229631546E081-14374
chr142963156429631657E081-14263
chr142963478429635139E081-10781
chr142963523829635329E081-10591
chr142964917229649222E0813252
chr142964977729649955E0813857
chr142968436029684418E08138440
chr142968446229684580E08138542
chr142968467429684952E08138754
chr142968508329686537E08139163
chr142968683229687340E08140912
chr142968737529687573E08141455
chr142968773329687922E08141813
chr142968911629689338E08143196
chr142969311229694459E08147192
chr142969446929694534E08148549
chr142969463329694719E08148713
chr142963146229631546E082-14374
chr142963156429631657E082-14263
chr142963230729632573E082-13347
chr142963478429635139E082-10781
chr142964977729649955E0823857
chr142965014829650217E0824228
chr142968467429684952E08238754
chr142968508329686537E08239163
chr142968683229687340E08240912
chr142968737529687573E08241455
chr142968901629689066E08243096
chr142968911629689338E08243196
chr142969311229694459E08247192
chr142969446929694534E08248549
chr142969463329694719E08248713
chr142969488029694930E08248960
chr142969497229695139E08249052




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr142969194729692275E07046027
chr142969194729692275E08246027