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rs397516993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAAA;CAAA) 0 common in clinvar
Make rs397516993(-;-)
Make rs397516993(-;CAAA)
ReferenceGRCh38 38.1/141
Chromosome12
Position32850772
GenePKP2
is asnp
is mentioned by
dbSNPrs397516993
ebirs397516993
HLIrs397516993
Exacrs397516993
Varsomers397516993
Maprs397516993
PheGenIrs397516993
hapmaprs397516993
1000 genomesrs397516993
hgdprs397516993
ensemblrs397516993
gopubmedrs397516993
geneviewrs397516993
scholarrs397516993
googlers397516993
pharmgkbrs397516993
gwascentralrs397516993
openSNPrs397516993
23andMers397516993
23andMe allrs397516993
SNP Nexus

SNPshotrs397516993
SNPdbers397516993
MSV3drs397516993
GWAS Ctlgrs397516993
Max Magnitude0
ClinVar
Risk rs397516993(;)
Alt rs397516993(;)
Reference rs397516993(CAAA;CAAA)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33003706_33003709delTTTG
CLNSRC ClinVar
CLNACC RCV000038159.2,