Have questions? Visit https://www.reddit.com/r/SNPedia

rs782460555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs782460555(A;A)
Make rs782460555(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position41771784
GeneJUP
is asnp
is mentioned by
dbSNPrs782460555
dbSNP (classic)rs782460555
ClinGenrs782460555
ebirs782460555
HLIrs782460555
Exacrs782460555
Gnomadrs782460555
Varsomers782460555
LitVarrs782460555
Maprs782460555
PheGenIrs782460555
Biobankrs782460555
1000 genomesrs782460555
hgdprs782460555
ensemblrs782460555
geneviewrs782460555
scholarrs782460555
googlers782460555
pharmgkbrs782460555
gwascentralrs782460555
openSNPrs782460555
23andMers782460555
SNPshotrs782460555
SNPdbers782460555
MSV3drs782460555
GWAS Ctlgrs782460555
Max Magnitude0
ClinVar
Risk rs782460555(A;A) rs782460555(T;T)
Alt rs782460555(A;A) rs782460555(T;T)
Reference Rs782460555(G;G)
Significance Pathogenic
Disease not provided Naxos disease
Variation info
Gene JUP
CLNDBN not provided Naxos disease
Reversed 0
HGVS NC_000017.10:g.39928036G>A; NC_000017.10:g.39928036G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000183480.1, RCV000194470.2,