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rs397516987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516987(A;A)
Make rs397516987(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32868925
GenePKP2
is asnp
is mentioned by
dbSNPrs397516987
dbSNP (classic)rs397516987
ClinGenrs397516987
ebirs397516987
HLIrs397516987
Exacrs397516987
Gnomadrs397516987
Varsomers397516987
LitVarrs397516987
Maprs397516987
PheGenIrs397516987
Biobankrs397516987
1000 genomesrs397516987
hgdprs397516987
ensemblrs397516987
geneviewrs397516987
scholarrs397516987
googlers397516987
pharmgkbrs397516987
gwascentralrs397516987
openSNPrs397516987
23andMers397516987
SNPshotrs397516987
SNPdbers397516987
MSV3drs397516987
GWAS Ctlgrs397516987
Max Magnitude0
ClinVar
Risk rs397516987(A;A)
Alt rs397516987(A;A)
Reference Rs397516987(T;T)
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.33021859A>T
CLNSRC ClinVar
CLNACC RCV000038150.2, RCV000183737.1,