rs6573137

Homo sapiens
A>G / A>T
EXOC5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0241 (7189/29776,GnomAD)
G=0350 (10205/29118,TOPMED)
G=0279 (1395/5008,1000G)
G=0059 (227/3854,ALSPAC)
G=0061 (226/3708,TWINSUK)
chr14:57233186 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57233186A>G
GRCh38.p7 chr 14NC_000014.9:g.57233186A>T
GRCh37.p13 chr 14NC_000014.8:g.57699904A>G
GRCh37.p13 chr 14NC_000014.8:g.57699904A>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=0.157G=0.843
1000GenomesAmericanSub694A=0.900G=0.100
1000GenomesEast AsianSub1008A=0.914G=0.086
1000GenomesEuropeSub1006A=0.942G=0.058
1000GenomesGlobalStudy-wide5008A=0.721G=0.279
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.941G=0.059
The Genome Aggregation DatabaseAfricanSub8618A=0.293G=0.707
The Genome Aggregation DatabaseAmericanSub834A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1618A=0.900G=0.100
The Genome Aggregation DatabaseEuropeSub18404A=0.954G=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29776A=0.758G=0.241
The Genome Aggregation DatabaseOtherSub302A=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.649G=0.350
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.939G=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
rs65731377.56E-05alcohol consumption23743675

eQTL of rs6573137 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 rs6573137 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 )
chr148774719187747386E070-13481
chr148774742087747571E070-13296
chr148774768287747722E070-13145
chr148774782087747880E070-12987
chr148774806187748309E070-12558
chr148774768287747722E081-13145
chr148774782087747880E081-12987
chr148774806187748309E081-12558
chr148777867487778865E08117807
chr148774606087746159E082-14708
chr148774719187747386E082-13481
chr148774742087747571E082-13296
chr148774768287747722E082-13145
chr148774782087747880E082-12987
chr148774806187748309E082-12558
chr148777867487778865E08217807
chr148777898087779502E08218113
chr148777955287779632E08218685