rs12269988

Homo sapiens
A>G
CAT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0059 (1783/29984,GnomAD)
G=0073 (2142/29118,TOPMED)
G=0052 (258/5008,1000G)
G=0039 (152/3854,ALSPAC)
G=0040 (147/3708,TWINSUK)
chr11:34451227 (GRCh38.p7) (11p13)
AD
GWASdb2
3   publication(s)
See rs on genome
20 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34451227A>G
GRCh37.p13 chr 11NC_000011.9:g.34472774A>G
CAT RefSeqGeneNG_013339.1:g.17303A>G

Gene: CAT, catalase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CAT transcriptNM_001752.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.874G=0.126
1000GenomesAmericanSub694A=0.960G=0.040
1000GenomesEast AsianSub1008A=0.998G=0.002
1000GenomesEuropeSub1006A=0.955G=0.045
1000GenomesGlobalStudy-wide5008A=0.948G=0.052
1000GenomesSouth AsianSub978A=0.980G=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.961G=0.039
The Genome Aggregation DatabaseAfricanSub8718A=0.892G=0.108
The Genome Aggregation DatabaseAmericanSub838A=0.970G=0.030
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18504A=0.957G=0.042
The Genome Aggregation DatabaseGlobalStudy-wide29984A=0.940G=0.059
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.926G=0.073
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.960G=0.040
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23641975Are catalase -844A/G polymorphism and activity associated with childhood obesity?Ruperez AIAntioxid Redox Signal

P-Value

SNP ID p-value Traits Study
rs122699880.0000525alcohol dependence21703634
rs122699880.00029alcohol dependence20201924

eQTL of rs12269988 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 rs12269988 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 )
chr113451427234514678E06741498
chr113446431934464369E068-8405
chr113447611334476163E0683339
chr113447632034476483E0683546
chr113447658534477021E0683811
chr113442882134429256E069-43518
chr113442933034429448E069-43326
chr113446979334469875E069-2899
chr113446994634470013E069-2761
chr113451427234514678E06941498
chr113442933034429448E071-43326
chr113451427234514678E07141498
chr113451482334514901E07142049
chr113451497934515029E07142205
chr113442882134429256E072-43518
chr113442933034429448E072-43326
chr113446431934464369E073-8405
chr113442882134429256E074-43518
chr113442933034429448E074-43326
chr113446252734462567E082-10207








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr113445971234461758E067-11016
chr113445957034459620E068-13154
chr113445971234461758E068-11016
chr113445957034459620E069-13154
chr113445971234461758E069-11016
chr113445957034459620E070-13154
chr113445971234461758E070-11016
chr113445971234461758E071-11016
chr113445957034459620E072-13154
chr113445971234461758E072-11016
chr113445957034459620E073-13154
chr113445971234461758E073-11016
chr113445971234461758E074-11016
chr113445971234461758E081-11016
chr113445957034459620E082-13154
chr113445971234461758E082-11016