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rs727504430

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727504430(A;T)
Make rs727504430(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position32878108
GenePKP2
is asnp
is mentioned by
dbSNPrs727504430
dbSNP (classic)rs727504430
ClinGenrs727504430
ebirs727504430
HLIrs727504430
Exacrs727504430
Gnomadrs727504430
Varsomers727504430
LitVarrs727504430
Maprs727504430
PheGenIrs727504430
Biobankrs727504430
1000 genomesrs727504430
hgdprs727504430
ensemblrs727504430
geneviewrs727504430
scholarrs727504430
googlers727504430
pharmgkbrs727504430
gwascentralrs727504430
openSNPrs727504430
23andMers727504430
SNPshotrs727504430
SNPdbers727504430
MSV3drs727504430
GWAS Ctlgrs727504430
Max Magnitude0
ClinVar
Risk rs727504430(T;T)
Alt rs727504430(T;T)
Reference Rs727504430(A;A)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not provided
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not provided
Reversed 1
HGVS NC_000012.11:g.33031042T>A
CLNSRC
CLNACC RCV000154661.2, RCV000183803.1,