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rs397516986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs397516986(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32868965
GenePKP2
is asnp
is mentioned by
dbSNPrs397516986
dbSNP (classic)rs397516986
ClinGenrs397516986
ebirs397516986
HLIrs397516986
Exacrs397516986
Gnomadrs397516986
Varsomers397516986
LitVarrs397516986
Maprs397516986
PheGenIrs397516986
Biobankrs397516986
1000 genomesrs397516986
hgdprs397516986
ensemblrs397516986
geneviewrs397516986
scholarrs397516986
googlers397516986
pharmgkbrs397516986
gwascentralrs397516986
openSNPrs397516986
23andMers397516986
SNPshotrs397516986
SNPdbers397516986
MSV3drs397516986
GWAS Ctlgrs397516986
Max Magnitude6.7
ClinVar
Risk rs397516986(T;T)
Alt rs397516986(T;T)
Reference Rs397516986(C;C)
Significance Other
Disease not provided Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN not provided Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33021899G>A
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000183735.2, RCV000211737.2,