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rs794729098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 6.7 Arrhythmogenic right ventricular dysplasia
(T;T) 0 common in clinvar


Make rs794729098(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position32796212
GenePKP2
is asnp
is mentioned by
dbSNPrs794729098
dbSNP (classic)rs794729098
ClinGenrs794729098
ebirs794729098
HLIrs794729098
Exacrs794729098
Gnomadrs794729098
Varsomers794729098
LitVarrs794729098
Maprs794729098
PheGenIrs794729098
Biobankrs794729098
1000 genomesrs794729098
hgdprs794729098
ensemblrs794729098
geneviewrs794729098
scholarrs794729098
googlers794729098
pharmgkbrs794729098
gwascentralrs794729098
openSNPrs794729098
23andMers794729098
SNPshotrs794729098
SNPdbers794729098
MSV3drs794729098
GWAS Ctlgrs794729098
Max Magnitude6.7
ClinVar
Risk rs794729098(C;C)
Alt rs794729098(C;C)
Reference Rs794729098(T;T)
Significance Pathogenic
Disease not provided Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN not provided Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 1
HGVS NC_000012.11:g.32949146A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000183710.3, RCV000456556.1,