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rs111517471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.7 Arrhythmogenic right ventricular dysplasia
(C;C) 0 common in clinvar
(C;T) 6.7 Arrhythmogenic right ventricular dysplasia
Make rs111517471(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position32796108
GenePKP2
is asnp
is mentioned by
dbSNPrs111517471
dbSNP (classic)rs111517471
ClinGenrs111517471
ebirs111517471
HLIrs111517471
Exacrs111517471
Gnomadrs111517471
Varsomers111517471
LitVarrs111517471
Maprs111517471
PheGenIrs111517471
Biobankrs111517471
1000 genomesrs111517471
hgdprs111517471
ensemblrs111517471
geneviewrs111517471
scholarrs111517471
googlers111517471
pharmgkbrs111517471
gwascentralrs111517471
openSNPrs111517471
23andMers111517471
SNPshotrs111517471
SNPdbers111517471
MSV3drs111517471
GWAS Ctlgrs111517471
Max Magnitude6.7
ClinVar
Risk rs111517471(A;A) rs111517471(G;G) rs111517471(T;T)
Alt rs111517471(A;A) rs111517471(G;G) rs111517471(T;T)
Reference Rs111517471(C;C)
Significance Other
Disease Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene PKP2
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not provided Arrhythmogenic right ventricular cardiomyopathy, type 9
Reversed 0
HGVS NC_000012.11:g.32949042C>A; NC_000012.11:g.32949042C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000038212.2, RCV000183715.1, RCV000007149.6, RCV000157417.1, RCV000183714.4,