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rs794729048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794729048(C;T)
Make rs794729048(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position41758470
GeneJUP
is asnp
is mentioned by
dbSNPrs794729048
dbSNP (classic)rs794729048
ClinGenrs794729048
ebirs794729048
HLIrs794729048
Exacrs794729048
Gnomadrs794729048
Varsomers794729048
LitVarrs794729048
Maprs794729048
PheGenIrs794729048
Biobankrs794729048
1000 genomesrs794729048
hgdprs794729048
ensemblrs794729048
geneviewrs794729048
scholarrs794729048
googlers794729048
pharmgkbrs794729048
gwascentralrs794729048
openSNPrs794729048
23andMers794729048
SNPshotrs794729048
SNPdbers794729048
MSV3drs794729048
GWAS Ctlgrs794729048
Max Magnitude0
ClinVar
Risk rs794729048(T;T)
Alt rs794729048(T;T)
Reference Rs794729048(C;C)
Significance Probable-Pathogenic
Disease Cardiac arrhythmia
Variation info
Gene JUP
CLNDBN Cardiac arrhythmia
Reversed 1
HGVS NC_000017.10:g.39914722G>A
CLNSRC
CLNACC RCV000183502.1,