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rs786204392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.7 Arrhythmogenic right ventricular dysplasia
(G;G) 0 common in clinvar


Make rs786204392(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position32868926
GenePKP2
is asnp
is mentioned by
dbSNPrs786204392
dbSNP (classic)rs786204392
ClinGenrs786204392
ebirs786204392
HLIrs786204392
Exacrs786204392
Gnomadrs786204392
Varsomers786204392
LitVarrs786204392
Maprs786204392
PheGenIrs786204392
Biobankrs786204392
1000 genomesrs786204392
hgdprs786204392
ensemblrs786204392
geneviewrs786204392
scholarrs786204392
googlers786204392
pharmgkbrs786204392
gwascentralrs786204392
openSNPrs786204392
23andMers786204392
SNPshotrs786204392
SNPdbers786204392
MSV3drs786204392
GWAS Ctlgrs786204392
Max Magnitude6.7
ClinVar
Risk rs786204392(A;A)
Alt rs786204392(A;A)
Reference Rs786204392(G;G)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9 Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33021860C>T
CLNSRC
CLNACC RCV000168932.3, RCV000257930.2,