rs1420469

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0030 (925/29934,GnomAD)
C=0031 (904/29118,TOPMED)
C=0045 (227/5008,1000G)
C=0033 (129/3854,ALSPAC)
C=0032 (119/3708,TWINSUK)
chr3:169024673 (GRCh38.p7) (3q26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.169024673T>C
GRCh37.p13 chr 3NC_000003.11:g.168742461T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.951C=0.049
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=0.953C=0.047
1000GenomesEuropeSub1006T=0.974C=0.026
1000GenomesGlobalStudy-wide5008T=0.955C=0.045
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.967C=0.033
The Genome Aggregation DatabaseAfricanSub8736T=0.968C=0.032
The Genome Aggregation DatabaseAmericanSub834T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1604T=0.964C=0.036
The Genome Aggregation DatabaseEuropeSub18458T=0.970C=0.029
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.969C=0.030
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.969C=0.031
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.968C=0.032
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
rs14204690.000237alcohol dependence24277619

eQTL of rs1420469 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 rs1420469 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 )
chr3168692484168692663E070-49798
chr3168692953168693029E070-49432
chr3168700261168700613E070-41848
chr3168700976168701069E070-41392
chr3168707994168708291E081-34170
chr3168728054168728264E081-14197
chr3168744325168745052E0811864
chr3168699920168700201E082-42260
chr3168700261168700613E082-41848
chr3168700976168701069E082-41392
chr3168744325168745052E0821864