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rs397517022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCCTG;TCCTG) 0 common in clinvar
Make rs397517022(CAGT;CAGT)
Make rs397517022(CAGT;TCCTG)
ReferenceGRCh38 38.1/141
Chromosome12
Position32796260
GenePKP2
is asnp
is mentioned by
dbSNPrs397517022
ebirs397517022
HLIrs397517022
Exacrs397517022
Varsomers397517022
Maprs397517022
PheGenIrs397517022
hapmaprs397517022
1000 genomesrs397517022
hgdprs397517022
ensemblrs397517022
gopubmedrs397517022
geneviewrs397517022
scholarrs397517022
googlers397517022
pharmgkbrs397517022
gwascentralrs397517022
openSNPrs397517022
23andMers397517022
23andMe allrs397517022
SNP Nexus

SNPshotrs397517022
SNPdbers397517022
MSV3drs397517022
GWAS Ctlgrs397517022
Max Magnitude0
ClinVar
Risk rs397517022(CAGT;CAGT)
Alt rs397517022(CAGT;CAGT)
Reference rs397517022(TCCTG;TCCTG)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32949194_32949198delCAGGAinsACTG
CLNSRC ClinVar
CLNACC RCV000038205.2,