rs12273124

Homo sapiens
A>G
CAT : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0111 (3335/29970,GnomAD)
G=0155 (4513/29118,TOPMED)
G=0113 (566/5008,1000G)
G=0040 (154/3854,ALSPAC)
G=0040 (147/3708,TWINSUK)
chr11:34458164 (GRCh38.p7) (11p13)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.34458164A>G
GRCh37.p13 chr 11NC_000011.9:g.34479711A>G
CAT RefSeqGeneNG_013339.1:g.24240A>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=0.650G=0.350
1000GenomesAmericanSub694A=0.950G=0.050
1000GenomesEast AsianSub1008A=0.999G=0.001
1000GenomesEuropeSub1006A=0.955G=0.045
1000GenomesGlobalStudy-wide5008A=0.887G=0.113
1000GenomesSouth AsianSub978A=0.980G=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.960G=0.040
The Genome Aggregation DatabaseAfricanSub8708A=0.716G=0.284
The Genome Aggregation DatabaseAmericanSub838A=0.950G=0.050
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18500A=0.956G=0.043
The Genome Aggregation DatabaseGlobalStudy-wide29970A=0.888G=0.111
The Genome Aggregation DatabaseOtherSub302A=0.920G=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.845G=0.155
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

P-Value

SNP ID p-value Traits Study
rs122731246.95E-05alcohol dependence21703634

eQTL of rs12273124 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 rs12273124 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 )
chr113451427234514678E06734561
chr113446431934464369E068-15342
chr113447611334476163E068-3548
chr113447632034476483E068-3228
chr113447658534477021E068-2690
chr113452298134523082E06843270
chr113452308534523857E06843374
chr113452399034524040E06844279
chr113446979334469875E069-9836
chr113446994634470013E069-9698
chr113451427234514678E06934561
chr113451427234514678E07134561
chr113451482334514901E07135112
chr113451497934515029E07135268
chr113446431934464369E073-15342
chr113446252734462567E082-17144






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr113445971234461758E067-17953
chr113445957034459620E068-20091
chr113445971234461758E068-17953
chr113445957034459620E069-20091
chr113445971234461758E069-17953
chr113445957034459620E070-20091
chr113445971234461758E070-17953
chr113445971234461758E071-17953
chr113445957034459620E072-20091
chr113445971234461758E072-17953
chr113445957034459620E073-20091
chr113445971234461758E073-17953
chr113445971234461758E074-17953
chr113445971234461758E081-17953
chr113445957034459620E082-20091
chr113445971234461758E082-17953