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rs1060501186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501186(C;T)
Make rs1060501186(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position32822594
GenePKP2
is asnp
is mentioned by
dbSNPrs1060501186
dbSNP (old)rs1060501186
ClinGenrs1060501186
ebirs1060501186
HLIrs1060501186
Exacrs1060501186
Gnomadrs1060501186
Varsomers1060501186
Maprs1060501186
PheGenIrs1060501186
Biobankrs1060501186
1000 genomesrs1060501186
hgdprs1060501186
ensemblrs1060501186
gopubmedrs1060501186
geneviewrs1060501186
scholarrs1060501186
googlers1060501186
pharmgkbrs1060501186
gwascentralrs1060501186
openSNPrs1060501186
23andMers1060501186
23andMe allrs1060501186
SNPshotrs1060501186
SNPdbers1060501186
MSV3drs1060501186
GWAS Ctlgrs1060501186
Max Magnitude0
ClinVar
Risk rs1060501186(T;T)
Alt rs1060501186(T;T)
Reference Rs1060501186(C;C)
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.32975528G>A
CLNSRC
CLNACC RCV000475518.1,