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rs397517010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397517010(-;T)
Make rs397517010(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32822616
GenePKP2
is asnp
is mentioned by
dbSNPrs397517010
dbSNP (classic)rs397517010
ClinGenrs397517010
ebirs397517010
HLIrs397517010
Exacrs397517010
Gnomadrs397517010
Varsomers397517010
LitVarrs397517010
Maprs397517010
PheGenIrs397517010
Biobankrs397517010
1000 genomesrs397517010
hgdprs397517010
ensemblrs397517010
geneviewrs397517010
scholarrs397517010
googlers397517010
pharmgkbrs397517010
gwascentralrs397517010
openSNPrs397517010
23andMers397517010
SNPshotrs397517010
SNPdbers397517010
MSV3drs397517010
GWAS Ctlgrs397517010
Max Magnitude0
ClinVar
Risk rs397517010(T;T)
Alt rs397517010(T;T)
Reference Rs397517010(-;-)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000012.11:g.32975551dupA
CLNSRC ClinVar
CLNACC RCV000038187.2, RCV000242219.1,