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rs1060501182

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060501182(-;-)
Make rs1060501182(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position32824094
GenePKP2
is asnp
is mentioned by
dbSNPrs1060501182
dbSNP (old)rs1060501182
ClinGenrs1060501182
ebirs1060501182
HLIrs1060501182
Exacrs1060501182
Gnomadrs1060501182
Varsomers1060501182
Maprs1060501182
PheGenIrs1060501182
Biobankrs1060501182
1000 genomesrs1060501182
hgdprs1060501182
ensemblrs1060501182
gopubmedrs1060501182
geneviewrs1060501182
scholarrs1060501182
googlers1060501182
pharmgkbrs1060501182
gwascentralrs1060501182
openSNPrs1060501182
23andMers1060501182
23andMe allrs1060501182
SNPshotrs1060501182
SNPdbers1060501182
MSV3drs1060501182
GWAS Ctlgrs1060501182
Max Magnitude0
ClinVar
Risk rs1060501182(-;-)
Alt rs1060501182(-;-)
Reference Rs1060501182(T;T)
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.32977028delA
CLNSRC
CLNACC RCV000461691.1,