rs12193553

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0155 (4644/29846,GnomAD)
T=0165 (4815/29118,TOPMED)
T=0143 (717/5008,1000G)
T=0135 (519/3854,ALSPAC)
T=0140 (518/3708,TWINSUK)
chr6:86384768 (GRCh38.p7) (6q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.86384768G>T
GRCh37.p13 chr 6NC_000006.11:g.87094486G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.805T=0.195
1000GenomesAmericanSub694G=0.900T=0.100
1000GenomesEast AsianSub1008G=0.947T=0.053
1000GenomesEuropeSub1006G=0.839T=0.161
1000GenomesGlobalStudy-wide5008G=0.857T=0.143
1000GenomesSouth AsianSub978G=0.820T=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.865T=0.135
The Genome Aggregation DatabaseAfricanSub8686G=0.802T=0.198
The Genome Aggregation DatabaseAmericanSub836G=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1592G=0.978T=0.022
The Genome Aggregation DatabaseEuropeSub18432G=0.849T=0.150
The Genome Aggregation DatabaseGlobalStudy-wide29846G=0.844T=0.155
The Genome Aggregation DatabaseOtherSub300G=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.834T=0.165
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.860T=0.140
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
rs121935539.3E-05alcohol dependence24277619

eQTL of rs12193553 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 rs12193553 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 )
chr68706564787065807E067-28679
chr68706564787065807E069-28679
chr68706564787065807E074-28679