rs4609598

Homo sapiens
C>A / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
A=0121 (3622/29898,GnomAD)
A=0157 (4597/29118,TOPMED)
A=0179 (897/5008,1000G)
A=0032 (125/3854,ALSPAC)
A=0029 (109/3708,TWINSUK)
chr11:24346342 (GRCh38.p7) (11p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.24346342C>A
GRCh38.p7 chr 11NC_000011.10:g.24346342C>T
GRCh37.p13 chr 11NC_000011.9:g.24367888C>A
GRCh37.p13 chr 11NC_000011.9:g.24367888C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.663A=0.337
1000GenomesAmericanSub694C=0.870A=0.130
1000GenomesEast AsianSub1008C=0.760A=0.240
1000GenomesEuropeSub1006C=0.963A=0.037
1000GenomesGlobalStudy-wide5008C=0.821A=0.179
1000GenomesSouth AsianSub978C=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.968A=0.032
The Genome Aggregation DatabaseAfricanSub8706C=0.711A=0.289
The Genome Aggregation DatabaseAmericanSub834C=0.850A=0.15,
The Genome Aggregation DatabaseEast AsianSub1608C=0.728A=0.272
The Genome Aggregation DatabaseEuropeSub18448C=0.971A=0.028
The Genome Aggregation DatabaseGlobalStudy-wide29898C=0.878A=0.121
The Genome Aggregation DatabaseOtherSub302C=0.950A=0.05,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.842A=0.157
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.971A=0.029
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs46095980.000942alcohol consumption (maxi-drinks)24277619

eQTL of rs4609598 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 rs4609598 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.