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rs878854710

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACACCC;ACACCC) 0 common in clinvar
Make rs878854710(ACACCC;G)
Make rs878854710(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position32802499
GenePKP2
is asnp
is mentioned by
dbSNPrs878854710
dbSNP (classic)rs878854710
ClinGenrs878854710
ebirs878854710
HLIrs878854710
Exacrs878854710
Gnomadrs878854710
Varsomers878854710
LitVarrs878854710
Maprs878854710
PheGenIrs878854710
Biobankrs878854710
1000 genomesrs878854710
hgdprs878854710
ensemblrs878854710
geneviewrs878854710
scholarrs878854710
googlers878854710
pharmgkbrs878854710
gwascentralrs878854710
openSNPrs878854710
23andMers878854710
SNPshotrs878854710
SNPdbers878854710
MSV3drs878854710
GWAS Ctlgrs878854710
Max Magnitude0
ClinVar
Risk rs878854710(G;G)
Alt rs878854710(G;G)
Reference Rs878854710(ACACCC;ACACCC)
Significance Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 1
HGVS NC_000012.11:g.32955433_32955438delGGGTGTinsC
CLNSRC
CLNACC RCV000229323.1,