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rs782440692

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs782440692(C;T)
Make rs782440692(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position41767494
GeneJUP
is asnp
is mentioned by
dbSNPrs782440692
ebirs782440692
HLIrs782440692
Exacrs782440692
Varsomers782440692
Maprs782440692
PheGenIrs782440692
hapmaprs782440692
1000 genomesrs782440692
hgdprs782440692
ensemblrs782440692
gopubmedrs782440692
geneviewrs782440692
scholarrs782440692
googlers782440692
pharmgkbrs782440692
gwascentralrs782440692
openSNPrs782440692
23andMers782440692
23andMe allrs782440692
SNP Nexus

SNPshotrs782440692
SNPdbers782440692
MSV3drs782440692
GWAS Ctlgrs782440692
Max Magnitude0
ClinVar
Risk rs782440692(T;T)
Alt rs782440692(T;T)
Reference rs782440692(C;C)
Significance Pathogenic
Disease Naxos disease
Variation info
Gene JUP
CLNDBN Naxos disease
Reversed 0
HGVS NC_000017.10:g.39923746C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000194635.2,