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rs782058451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs782058451(C;C)
Make rs782058451(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position41767386
GeneJUP
is asnp
is mentioned by
dbSNPrs782058451
dbSNP (classic)rs782058451
ClinGenrs782058451
ebirs782058451
HLIrs782058451
Exacrs782058451
Gnomadrs782058451
Varsomers782058451
LitVarrs782058451
Maprs782058451
PheGenIrs782058451
Biobankrs782058451
1000 genomesrs782058451
hgdprs782058451
ensemblrs782058451
geneviewrs782058451
scholarrs782058451
googlers782058451
pharmgkbrs782058451
gwascentralrs782058451
openSNPrs782058451
23andMers782058451
SNPshotrs782058451
SNPdbers782058451
MSV3drs782058451
GWAS Ctlgrs782058451
Max Magnitude0
ClinVar
Risk rs782058451(C;C)
Alt rs782058451(C;C)
Reference Rs782058451(T;T)
Significance Probable-Pathogenic
Disease Arrhythmogenic right ventricular cardiomyopathy not specified
Variation info
Gene JUP
CLNDBN Arrhythmogenic right ventricular cardiomyopathy not specified
Reversed 0
HGVS NC_000017.10:g.39923638T>C
CLNSRC
CLNACC RCV000208313.1, RCV000213286.1,