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rs794729137

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6.7 Arrhythmogenic right ventricular dysplasia
(G;G) 0 common in clinvar
(I;I) 0 common genotype


Make rs794729137(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position32841073
GenePKP2
is asnp
is mentioned by
dbSNPrs794729137
dbSNP (classic)rs794729137
ClinGenrs794729137
ebirs794729137
HLIrs794729137
Exacrs794729137
Gnomadrs794729137
Varsomers794729137
LitVarrs794729137
Maprs794729137
PheGenIrs794729137
Biobankrs794729137
1000 genomesrs794729137
hgdprs794729137
ensemblrs794729137
geneviewrs794729137
scholarrs794729137
googlers794729137
pharmgkbrs794729137
gwascentralrs794729137
openSNPrs794729137
23andMers794729137
SNPshotrs794729137
SNPdbers794729137
MSV3drs794729137
GWAS Ctlgrs794729137
Max Magnitude6.7
ClinVar
Risk rs794729137(-;-)
Alt rs794729137(-;-)
Reference Rs794729137(G;G)
Significance Pathogenic
Disease not provided Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN not provided Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 1
HGVS NC_000012.11:g.32994007delC
CLNSRC
CLNACC RCV000183812.1, RCV000217215.1, RCV000229546.2,