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rs869025496

From SNPedia

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


Make rs869025496(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position32877845
GenePKP2
is asnp
is mentioned by
dbSNPrs869025496
dbSNP (classic)rs869025496
ClinGenrs869025496
ebirs869025496
HLIrs869025496
Exacrs869025496
Gnomadrs869025496
Varsomers869025496
LitVarrs869025496
Maprs869025496
PheGenIrs869025496
Biobankrs869025496
1000 genomesrs869025496
hgdprs869025496
ensemblrs869025496
geneviewrs869025496
scholarrs869025496
googlers869025496
pharmgkbrs869025496
gwascentralrs869025496
openSNPrs869025496
23andMers869025496
SNPshotrs869025496
SNPdbers869025496
MSV3drs869025496
GWAS Ctlgrs869025496
Max Magnitude6.7
ClinVar
Risk rs869025496(A;A) rs869025496(T;T)
Alt rs869025496(A;A) rs869025496(T;T)
Reference Rs869025496(G;G)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33030779C>A; NC_000012.11:g.33030779C>T
CLNSRC
CLNACC RCV000218069.1, RCV000208519.1,