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rs782091454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs782091454(A;G)
Make rs782091454(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position41767470
GeneJUP
is asnp
is mentioned by
dbSNPrs782091454
dbSNP (classic)rs782091454
ClinGenrs782091454
ebirs782091454
HLIrs782091454
Exacrs782091454
Gnomadrs782091454
Varsomers782091454
LitVarrs782091454
Maprs782091454
PheGenIrs782091454
Biobankrs782091454
1000 genomesrs782091454
hgdprs782091454
ensemblrs782091454
geneviewrs782091454
scholarrs782091454
googlers782091454
pharmgkbrs782091454
gwascentralrs782091454
openSNPrs782091454
23andMers782091454
SNPshotrs782091454
SNPdbers782091454
MSV3drs782091454
GWAS Ctlgrs782091454
Merged fromRs794729053
Max Magnitude0
ClinVar
Risk rs782091454(G;G)
Alt rs782091454(G;G)
Reference Rs782091454(A;A)
Significance Probable-Pathogenic
Disease Naxos disease Cardiomyopathy
Variation info
Gene JUP
CLNDBN Naxos disease Cardiomyopathy, ARVC
Reversed 0
HGVS NC_000017.10:g.39923722A>G
CLNSRC
CLNACC RCV000313301.1, RCV000370239.1,