rs16837283

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0081 (2452/29928,GnomAD)
C=0074 (2175/29116,TOPMED)
C=0128 (640/5008,1000G)
C=0096 (369/3854,ALSPAC)
C=0111 (410/3708,TWINSUK)
chr1:238655494 (GRCh38.p7) (1q43)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.238655494T>C
GRCh37.p13 chr 1NC_000001.10:g.238818794T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.995C=0.005
1000GenomesAmericanSub694T=0.880C=0.120
1000GenomesEast AsianSub1008T=0.801C=0.199
1000GenomesEuropeSub1006T=0.898C=0.102
1000GenomesGlobalStudy-wide5008T=0.872C=0.128
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.904C=0.096
The Genome Aggregation DatabaseAfricanSub8730T=0.979C=0.021
The Genome Aggregation DatabaseAmericanSub832T=0.900C=0.100
The Genome Aggregation DatabaseEast AsianSub1616T=0.827C=0.173
The Genome Aggregation DatabaseEuropeSub18448T=0.898C=0.101
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.918C=0.081
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.925C=0.074
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.889C=0.111
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
rs168372830.000969alcohol dependence24277619

eQTL of rs16837283 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 rs16837283 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 )
chr1238835375238835463E08116581
chr1238835606238835886E08116812