rs12272630

Homo sapiens
G>C
CAT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0110 (3310/29954,GnomAD)
C=0154 (4499/29118,TOPMED)
C=0112 (559/5008,1000G)
C=0040 (153/3854,ALSPAC)
C=0040 (149/3708,TWINSUK)
chr11:34440118 (GRCh38.p7) (11p13)
AD
GWASdb2
2   publication(s)
See rs on genome
15 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34440118G>C
GRCh37.p13 chr 11NC_000011.9:g.34461665G>C
CAT RefSeqGeneNG_013339.1:g.6194G>C

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
1000GenomesAfricanSub1322G=0.656C=0.344
1000GenomesAmericanSub694G=0.940C=0.060
1000GenomesEast AsianSub1008G=0.999C=0.001
1000GenomesEuropeSub1006G=0.955C=0.045
1000GenomesGlobalStudy-wide5008G=0.888C=0.112
1000GenomesSouth AsianSub978G=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.960C=0.040
The Genome Aggregation DatabaseAfricanSub8708G=0.719C=0.281
The Genome Aggregation DatabaseAmericanSub838G=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1622G=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18484G=0.957C=0.043
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.889C=0.110
The Genome Aggregation DatabaseOtherSub302G=0.920C=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.845C=0.154
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.960C=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

P-Value

SNP ID p-value Traits Study
rs122726300.0000695alcohol dependence21703634
rs122726300.00053alcohol dependence20201924

eQTL of rs12272630 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 rs12272630 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 )
chr113446431934464369E0682654
chr113447611334476163E06814448
chr113447632034476483E06814655
chr113447658534477021E06814920
chr113442882134429256E069-32409
chr113442933034429448E069-32217
chr113446979334469875E0698128
chr113446994634470013E0698281
chr113442933034429448E071-32217
chr113442882134429256E072-32409
chr113442933034429448E072-32217
chr113446431934464369E0732654
chr113442882134429256E074-32409
chr113442933034429448E074-32217
chr113446252734462567E082862







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr113445971234461758E0670
chr113445957034459620E068-2045
chr113445971234461758E0680
chr113445957034459620E069-2045
chr113445971234461758E0690
chr113445957034459620E070-2045
chr113445971234461758E0700
chr113445971234461758E0710
chr113445957034459620E072-2045
chr113445971234461758E0720
chr113445957034459620E073-2045
chr113445971234461758E0730
chr113445971234461758E0740
chr113445971234461758E0810
chr113445957034459620E082-2045
chr113445971234461758E0820