rs60328452

Homo sapiens
A>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0301 (9013/29908,GnomAD)
T=0400 (11648/29118,TOPMED)
T=0312 (1560/5008,1000G)
T=0138 (531/3854,ALSPAC)
T=0152 (563/3708,TWINSUK)
chr14:57217583 (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.57217583A>T
GRCh37.p13 chr 14NC_000014.8:g.57684301A>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=0.154T=0.846
1000GenomesAmericanSub694A=0.870T=0.130
1000GenomesEast AsianSub1008A=0.886T=0.114
1000GenomesEuropeSub1006A=0.881T=0.119
1000GenomesGlobalStudy-wide5008A=0.688T=0.312
1000GenomesSouth AsianSub978A=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.862T=0.138
The Genome Aggregation DatabaseAfricanSub8688A=0.280T=0.720
The Genome Aggregation DatabaseAmericanSub838A=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1616A=0.856T=0.144
The Genome Aggregation DatabaseEuropeSub18466A=0.870T=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.698T=0.301
The Genome Aggregation DatabaseOtherSub300A=0.850T=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.600T=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.848T=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
rs603284523.73E-05alcohol consumption23743675

eQTL of rs60328452 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 rs60328452 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 )
chr145773227857732427E06747977
chr145773245857732577E06748157
chr145773286157733116E06748560
chr145773317257733273E06748871
chr145773352257733779E06749221
chr145773391657733990E06749615
chr145771797557718025E06833674
chr145773352257733779E06849221
chr145773391657733990E06849615
chr145772167257721873E06937371
chr145772213357722183E06937832
chr145773227857732427E07047977
chr145773245857732577E07048157
chr145771797557718025E07133674
chr145772167257721873E07137371
chr145772213357722183E07137832
chr145773227857732427E07147977
chr145773245857732577E07148157
chr145773286157733116E07148560
chr145773317257733273E07148871
chr145773352257733779E07149221
chr145772167257721873E07237371
chr145772213357722183E07237832
chr145773391657733990E07249615
chr145772167257721873E07437371
chr145772213357722183E07437832
chr145772312357723173E07438822
chr145772331857723368E07439017
chr145773286157733116E07448560
chr145773317257733273E07448871
chr145773391657733990E07449615
chr145764085457640986E081-43315
chr145764112257641684E081-42617
chr145764209457642148E081-42153
chr145764228557642434E081-41867
chr145773286157733116E08148560
chr145773317257733273E08148871
chr145773352257733779E08149221
chr145773391657733990E08149615