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rs397517013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397517013(-;-)
Make rs397517013(-;GAAG)
Make rs397517013(GAAG;GAAG)
ReferenceGRCh38 38.1/141
Chromosome12
Position32822482
GenePKP2
is asnp
is mentioned by
dbSNPrs397517013
ebirs397517013
HLIrs397517013
Exacrs397517013
Varsomers397517013
Maprs397517013
PheGenIrs397517013
hapmaprs397517013
1000 genomesrs397517013
hgdprs397517013
ensemblrs397517013
gopubmedrs397517013
geneviewrs397517013
scholarrs397517013
googlers397517013
pharmgkbrs397517013
gwascentralrs397517013
openSNPrs397517013
23andMers397517013
23andMe allrs397517013
SNP Nexus

SNPshotrs397517013
SNPdbers397517013
MSV3drs397517013
GWAS Ctlgrs397517013
Max Magnitude0
ClinVar
Risk rs397517013(GAAG;GAAG)
Alt rs397517013(GAAG;GAAG)
Reference rs397517013(;)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32975417_32975420dupCTTC
CLNSRC ClinVar
CLNACC RCV000038191.2,