rs1420585

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0141 (4231/29950,GnomAD)
T=0131 (3820/29118,TOPMED)
T=0228 (1142/5008,1000G)
T=0137 (529/3854,ALSPAC)
T=0143 (531/3708,TWINSUK)
chr16:48961985 (GRCh38.p7) (16q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.48961985C>T
GRCh37.p13 chr 16NC_000016.9:g.48995896C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.899T=0.101
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.601T=0.399
1000GenomesEuropeSub1006C=0.850T=0.150
1000GenomesGlobalStudy-wide5008C=0.772T=0.228
1000GenomesSouth AsianSub978C=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.863T=0.137
The Genome Aggregation DatabaseAfricanSub8716C=0.901T=0.099
The Genome Aggregation DatabaseAmericanSub838C=0.830T=0.170
The Genome Aggregation DatabaseEast AsianSub1614C=0.583T=0.417
The Genome Aggregation DatabaseEuropeSub18480C=0.865T=0.134
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.858T=0.141
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.868T=0.131
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.857T=0.143
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
rs14205850.000676alcohol consumption (maxi-drinks)24277619

eQTL of rs1420585 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 rs1420585 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 )
chr164894620548946271E068-49625
chr164894635848946556E068-49340
chr164900508649005421E0689190
chr164898970548990491E070-5405
chr164899922848999721E0703332
chr164899989448999969E0703998
chr164900008249000173E0704186
chr164900021749000309E0704321
chr164900032649000397E0704430
chr164894773048947828E081-48068
chr164894807648948249E081-47647
chr164894826448948532E081-47364
chr164894863548948689E081-47207
chr164897975348980645E081-15251
chr164898074948981474E081-14422
chr164903292049033449E08137024
chr164903346949033726E08137573
chr164903385949033937E08137963