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rs397516990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516990(C;C)
Make rs397516990(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32850873
GenePKP2
is asnp
is mentioned by
dbSNPrs397516990
ebirs397516990
HLIrs397516990
Exacrs397516990
Varsomers397516990
Maprs397516990
PheGenIrs397516990
hapmaprs397516990
1000 genomesrs397516990
hgdprs397516990
ensemblrs397516990
gopubmedrs397516990
geneviewrs397516990
scholarrs397516990
googlers397516990
pharmgkbrs397516990
gwascentralrs397516990
openSNPrs397516990
23andMers397516990
23andMe allrs397516990
SNP Nexus

SNPshotrs397516990
SNPdbers397516990
MSV3drs397516990
GWAS Ctlgrs397516990
Max Magnitude0
ClinVar
Risk rs397516990(C;C)
Alt rs397516990(C;C)
Reference rs397516990(T;T)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33003807A>G
CLNSRC ClinVar
CLNACC RCV000038156.2,