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rs121434420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs121434420(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32879021
GenePKP2
is asnp
is mentioned by
dbSNPrs121434420
dbSNP (classic)rs121434420
ClinGenrs121434420
ebirs121434420
HLIrs121434420
Exacrs121434420
Gnomadrs121434420
Varsomers121434420
LitVarrs121434420
Maprs121434420
PheGenIrs121434420
Biobankrs121434420
1000 genomesrs121434420
hgdprs121434420
ensemblrs121434420
geneviewrs121434420
scholarrs121434420
googlers121434420
pharmgkbrs121434420
gwascentralrs121434420
openSNPrs121434420
23andMers121434420
SNPshotrs121434420
SNPdbers121434420
MSV3drs121434420
GWAS Ctlgrs121434420
Max Magnitude6.7
OMIM602861
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434420(T;T)
Alt rs121434420(T;T)
Reference Rs121434420(C;C)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9 not provided Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000012.11:g.33031955G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007146.5, RCV000183722.4, RCV000211843.1, RCV000246785.1,