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rs151212477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Extremely likely to be a miscall in Ancestry data (and possibly data from other companies using the same chip type as Ancestry)
(G;G) 0 common in clinvar
Make rs151212477(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position32843203
GenePKP2
is asnp
is mentioned by
dbSNPrs151212477
dbSNP (classic)rs151212477
ClinGenrs151212477
ebirs151212477
HLIrs151212477
Exacrs151212477
Gnomadrs151212477
Varsomers151212477
LitVarrs151212477
Maprs151212477
PheGenIrs151212477
Biobankrs151212477
1000 genomesrs151212477
hgdprs151212477
ensemblrs151212477
geneviewrs151212477
scholarrs151212477
googlers151212477
pharmgkbrs151212477
gwascentralrs151212477
openSNPrs151212477
23andMers151212477
SNPshotrs151212477
SNPdbers151212477
MSV3drs151212477
GWAS Ctlgrs151212477
Max Magnitude1

c.1489C>T (p.Arg497Ter)

ClinVar
Risk Rs151212477(A;A)
Alt Rs151212477(A;A)
Reference Rs151212477(G;G)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 0
HGVS NC_000012.11:g.32996137G>A
CLNSRC
CLNACC RCV000262179.1,