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rs794727884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727884(-;-)
Make rs794727884(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position3492943
GeneDOK7
is asnp
is mentioned by
dbSNPrs794727884
dbSNP (classic)rs794727884
ClinGenrs794727884
ebirs794727884
HLIrs794727884
Exacrs794727884
Gnomadrs794727884
Varsomers794727884
LitVarrs794727884
Maprs794727884
PheGenIrs794727884
Biobankrs794727884
1000 genomesrs794727884
hgdprs794727884
ensemblrs794727884
geneviewrs794727884
scholarrs794727884
googlers794727884
pharmgkbrs794727884
gwascentralrs794727884
openSNPrs794727884
23andMers794727884
SNPshotrs794727884
SNPdbers794727884
MSV3drs794727884
GWAS Ctlgrs794727884
Max Magnitude0
ClinVar
Risk rs794727884(-;-)
Alt rs794727884(-;-)
Reference Rs794727884(C;C)
Significance Pathogenic
Disease Myasthenia
Variation info
Gene DOK7
CLNDBN Myasthenia, limb-girdle, familial
Reversed 0
HGVS NC_000004.11:g.3494670delC
CLNSRC
CLNACC RCV000180012.1,