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rs727504432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504432(-;-)
Make rs727504432(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position32792712
GenePKP2
is asnp
is mentioned by
dbSNPrs727504432
dbSNP (classic)rs727504432
ClinGenrs727504432
ebirs727504432
HLIrs727504432
Exacrs727504432
Gnomadrs727504432
Varsomers727504432
LitVarrs727504432
Maprs727504432
PheGenIrs727504432
Biobankrs727504432
1000 genomesrs727504432
hgdprs727504432
ensemblrs727504432
geneviewrs727504432
scholarrs727504432
googlers727504432
pharmgkbrs727504432
gwascentralrs727504432
openSNPrs727504432
23andMers727504432
SNPshotrs727504432
SNPdbers727504432
MSV3drs727504432
GWAS Ctlgrs727504432
Max Magnitude0
ClinVar
Risk rs727504432(-;-)
Alt rs727504432(-;-)
Reference Rs727504432(A;A)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not provided Cardiovascular phenotype Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 1
HGVS NC_000012.11:g.32945646delT
CLNSRC
CLNACC RCV000154671.2, RCV000183778.4, RCV000251945.1, RCV000470468.1,