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rs730880180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880180(C;C)
Make rs730880180(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position32869018
GenePKP2
is asnp
is mentioned by
dbSNPrs730880180
ClinGenrs730880180
ebirs730880180
HLIrs730880180
Exacrs730880180
Varsomers730880180
Maprs730880180
PheGenIrs730880180
hapmaprs730880180
1000 genomesrs730880180
hgdprs730880180
ensemblrs730880180
gopubmedrs730880180
geneviewrs730880180
scholarrs730880180
googlers730880180
pharmgkbrs730880180
gwascentralrs730880180
openSNPrs730880180
23andMers730880180
23andMe allrs730880180
SNP Nexus

SNPshotrs730880180
SNPdbers730880180
MSV3drs730880180
GWAS Ctlgrs730880180
Max Magnitude0
ClinVar
Risk rs730880180(C;C)
Alt rs730880180(C;C)
Reference Rs730880180(T;T)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.33021952A>G
CLNSRC
CLNACC RCV000157411.1,