rs270188

Homo sapiens
G>A / G>C
None
Check p-value
SNV (Single Nucleotide Variation)
G==0163 (4900/29954,GnomAD)
G==0139 (4057/29118,TOPMED)
G==0220 (1101/5008,1000G)
chr5:5124036 (GRCh38.p7) (5p15.32)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.5124036G>A
GRCh38.p7 chr 5NC_000005.10:g.5124036G>C
GRCh37.p13 chr 5NC_000005.9:g.5124149G>A
GRCh37.p13 chr 5NC_000005.9:g.5124149G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.102A=0.898
1000GenomesAmericanSub694G=0.180A=0.820
1000GenomesEast AsianSub1008G=0.566A=0.434
1000GenomesEuropeSub1006G=0.157A=0.843
1000GenomesGlobalStudy-wide5008G=0.220A=0.780
1000GenomesSouth AsianSub978G=0.110A=0.890
The Genome Aggregation DatabaseAfricanSub8722G=0.127C=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.230C=0.00,
The Genome Aggregation DatabaseEast AsianSub1608G=0.509C=0.000
The Genome Aggregation DatabaseEuropeSub18484G=0.146C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.163C=0.000
The Genome Aggregation DatabaseOtherSub302G=0.220C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.139A=0.860
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
rs2701885.96E-05alcohol consumption23743675

eQTL of rs270188 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 rs270188 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 )
chr528667092867113E0696194