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rs397516989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs397516989(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32850932
GenePKP2
is asnp
is mentioned by
dbSNPrs397516989
dbSNP (classic)rs397516989
ClinGenrs397516989
ebirs397516989
HLIrs397516989
Exacrs397516989
Gnomadrs397516989
Varsomers397516989
LitVarrs397516989
Maprs397516989
PheGenIrs397516989
Biobankrs397516989
1000 genomesrs397516989
hgdprs397516989
ensemblrs397516989
geneviewrs397516989
scholarrs397516989
googlers397516989
pharmgkbrs397516989
gwascentralrs397516989
openSNPrs397516989
23andMers397516989
SNPshotrs397516989
SNPdbers397516989
MSV3drs397516989
GWAS Ctlgrs397516989
Max Magnitude6.7
ClinVar
Risk rs397516989(T;T)
Alt rs397516989(T;T)
Reference Rs397516989(-;-)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33003867dupA
CLNSRC ClinVar
CLNACC RCV000038154.2,