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rs786204394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATCATT;ATCATT) 0 common in clinvar
Make rs786204394(ATCATT;G)
Make rs786204394(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position32796264
GenePKP2
is asnp
is mentioned by
dbSNPrs786204394
dbSNP (classic)rs786204394
ClinGenrs786204394
ebirs786204394
HLIrs786204394
Exacrs786204394
Gnomadrs786204394
Varsomers786204394
LitVarrs786204394
Maprs786204394
PheGenIrs786204394
Biobankrs786204394
1000 genomesrs786204394
hgdprs786204394
ensemblrs786204394
geneviewrs786204394
scholarrs786204394
googlers786204394
pharmgkbrs786204394
gwascentralrs786204394
openSNPrs786204394
23andMers786204394
SNPshotrs786204394
SNPdbers786204394
MSV3drs786204394
GWAS Ctlgrs786204394
Max Magnitude0
ClinVar
Risk rs786204394(G;G)
Alt rs786204394(G;G)
Reference Rs786204394(ATCATT;ATCATT)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.32949198_32949203delinsC
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000168937.2,