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rs1060501188

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501188(A;C)
Make rs1060501188(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position32792494
GenePKP2
is asnp
is mentioned by
dbSNPrs1060501188
dbSNP (old)rs1060501188
ClinGenrs1060501188
ebirs1060501188
HLIrs1060501188
Exacrs1060501188
Gnomadrs1060501188
Varsomers1060501188
Maprs1060501188
PheGenIrs1060501188
Biobankrs1060501188
1000 genomesrs1060501188
hgdprs1060501188
ensemblrs1060501188
gopubmedrs1060501188
geneviewrs1060501188
scholarrs1060501188
googlers1060501188
pharmgkbrs1060501188
gwascentralrs1060501188
openSNPrs1060501188
23andMers1060501188
23andMe allrs1060501188
SNPshotrs1060501188
SNPdbers1060501188
MSV3drs1060501188
GWAS Ctlgrs1060501188
Max Magnitude0
ClinVar
Risk rs1060501188(C;C)
Alt rs1060501188(C;C)
Reference Rs1060501188(A;A)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 1
HGVS NC_000012.11:g.32945428T>G
CLNSRC
CLNACC RCV000477569.1,