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rs786204395

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AACACC;AACACC) 0 common in clinvar
Make rs786204395(AACACC;GAAA)
Make rs786204395(GAAA;GAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position32796150
GenePKP2
is asnp
is mentioned by
dbSNPrs786204395
dbSNP (classic)rs786204395
ClinGenrs786204395
ebirs786204395
HLIrs786204395
Exacrs786204395
Gnomadrs786204395
Varsomers786204395
LitVarrs786204395
Maprs786204395
PheGenIrs786204395
Biobankrs786204395
1000 genomesrs786204395
hgdprs786204395
ensemblrs786204395
geneviewrs786204395
scholarrs786204395
googlers786204395
pharmgkbrs786204395
gwascentralrs786204395
openSNPrs786204395
23andMers786204395
SNPshotrs786204395
SNPdbers786204395
MSV3drs786204395
GWAS Ctlgrs786204395
Max Magnitude0
ClinVar
Risk rs786204395(GAAA;GAAA)
Alt rs786204395(GAAA;GAAA)
Reference Rs786204395(AACACC;AACACC)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32949084_32949089delinsTTTC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168938.2,