rs1346520

Homo sapiens
G>A / G>C
None
Check p-value
SNV (Single Nucleotide Variation)
A=0041 (1237/29974,GnomAD)
A=0045 (1309/29118,TOPMED)
A=0023 (117/5008,1000G)
chr5:119650293 (GRCh38.p7) (5q23.1)
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.119650293G>A
GRCh38.p7 chr 5NC_000005.10:g.119650293G>C
GRCh37.p13 chr 5NC_000005.9:g.118985988G>A
GRCh37.p13 chr 5NC_000005.9:g.118985988G>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.998A=0.002
1000GenomesAmericanSub694G=0.950A=0.05,
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.950A=0.049
1000GenomesGlobalStudy-wide5008G=0.976A=0.023
1000GenomesSouth AsianSub978G=0.970A=0.03,
The Genome Aggregation DatabaseAfricanSub8728G=0.987C=0.000
The Genome Aggregation DatabaseAmericanSub836G=0.950C=0.00,
The Genome Aggregation DatabaseEast AsianSub1614G=0.998C=0.000
The Genome Aggregation DatabaseEuropeSub18494G=0.937C=0.005
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.955C=0.003
The Genome Aggregation DatabaseOtherSub302G=0.900C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.955A=0.045
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs13465205.99E-05alcohol consumption23953852

eQTL of rs1346520 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 rs1346520 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