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rs397517001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397517001(A;A)
Make rs397517001(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position32841102
GenePKP2
is asnp
is mentioned by
dbSNPrs397517001
ebirs397517001
HLIrs397517001
Exacrs397517001
Varsomers397517001
Maprs397517001
PheGenIrs397517001
hapmaprs397517001
1000 genomesrs397517001
hgdprs397517001
ensemblrs397517001
gopubmedrs397517001
geneviewrs397517001
scholarrs397517001
googlers397517001
pharmgkbrs397517001
gwascentralrs397517001
openSNPrs397517001
23andMers397517001
23andMe allrs397517001
SNP Nexus

SNPshotrs397517001
SNPdbers397517001
MSV3drs397517001
GWAS Ctlgrs397517001
Max Magnitude0
ClinVar
Risk rs397517001(A;A)
Alt rs397517001(A;A)
Reference rs397517001(G;G)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32994036C>T
CLNSRC ClinVar
CLNACC RCV000038175.2,