Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060501184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501184(A;A)
Make rs1060501184(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position32796299
GenePKP2
is asnp
is mentioned by
dbSNPrs1060501184
dbSNP (old)rs1060501184
ClinGenrs1060501184
ebirs1060501184
HLIrs1060501184
Exacrs1060501184
Gnomadrs1060501184
Varsomers1060501184
LitVarrs1060501184
Maprs1060501184
PheGenIrs1060501184
Biobankrs1060501184
1000 genomesrs1060501184
hgdprs1060501184
ensemblrs1060501184
gopubmedrs1060501184
geneviewrs1060501184
scholarrs1060501184
googlers1060501184
pharmgkbrs1060501184
gwascentralrs1060501184
openSNPrs1060501184
23andMers1060501184
23andMe allrs1060501184
SNPshotrs1060501184
SNPdbers1060501184
MSV3drs1060501184
GWAS Ctlgrs1060501184
Max Magnitude0
ClinVar
Risk rs1060501184(A;A)
Alt rs1060501184(A;A)
Reference Rs1060501184(G;G)
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.32949233C>T
CLNSRC
CLNACC RCV000456706.1,