rs1555788

Homo sapiens
A>C
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0301 (9021/29886,GnomAD)
C=0400 (11655/29118,TOPMED)
C=0311 (1557/5008,1000G)
C=0138 (532/3854,ALSPAC)
C=0152 (563/3708,TWINSUK)
chr14:57218454 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57218454A>C
GRCh37.p13 chr 14NC_000014.8:g.57685172A>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
1000GenomesAfricanSub1322A=0.154C=0.846
1000GenomesAmericanSub694A=0.870C=0.130
1000GenomesEast AsianSub1008A=0.886C=0.114
1000GenomesEuropeSub1006A=0.881C=0.119
1000GenomesGlobalStudy-wide5008A=0.689C=0.311
1000GenomesSouth AsianSub978A=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.862C=0.138
The Genome Aggregation DatabaseAfricanSub8692A=0.279C=0.721
The Genome Aggregation DatabaseAmericanSub836A=0.890C=0.110
The Genome Aggregation DatabaseEast AsianSub1620A=0.857C=0.143
The Genome Aggregation DatabaseEuropeSub18436A=0.870C=0.129
The Genome Aggregation DatabaseGlobalStudy-wide29886A=0.698C=0.301
The Genome Aggregation DatabaseOtherSub302A=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.599C=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=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
rs15557883.79E-05alcohol consumption23743675

eQTL of rs1555788 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 rs1555788 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 )
chr145773227857732427E06747106
chr145773245857732577E06747286
chr145773286157733116E06747689
chr145773317257733273E06748000
chr145773352257733779E06748350
chr145773391657733990E06748744
chr145771797557718025E06832803
chr145773352257733779E06848350
chr145773391657733990E06848744
chr145772167257721873E06936500
chr145772213357722183E06936961
chr145773227857732427E07047106
chr145773245857732577E07047286
chr145771797557718025E07132803
chr145772167257721873E07136500
chr145772213357722183E07136961
chr145773227857732427E07147106
chr145773245857732577E07147286
chr145773286157733116E07147689
chr145773317257733273E07148000
chr145773352257733779E07148350
chr145772167257721873E07236500
chr145772213357722183E07236961
chr145773391657733990E07248744
chr145772167257721873E07436500
chr145772213357722183E07436961
chr145772312357723173E07437951
chr145772331857723368E07438146
chr145773286157733116E07447689
chr145773317257733273E07448000
chr145773391657733990E07448744
chr145764085457640986E081-44186
chr145764112257641684E081-43488
chr145764209457642148E081-43024
chr145764228557642434E081-42738
chr145773286157733116E08147689
chr145773317257733273E08148000
chr145773352257733779E08148350
chr145773391657733990E08148744








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E06749382
chr145773455457734668E06849382
chr145773455457734668E06949382
chr145773455457734668E07049382
chr145773455457734668E07149382
chr145773455457734668E07349382
chr145773455457734668E07449382
chr145773455457734668E08149382
chr145773455457734668E08249382