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rs779694939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs779694939(A;G)
Make rs779694939(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position36236954
GeneGNE
is asnp
is mentioned by
dbSNPrs779694939
dbSNP (classic)rs779694939
ClinGenrs779694939
ebirs779694939
HLIrs779694939
Exacrs779694939
Gnomadrs779694939
Varsomers779694939
LitVarrs779694939
Maprs779694939
PheGenIrs779694939
Biobankrs779694939
1000 genomesrs779694939
hgdprs779694939
ensemblrs779694939
geneviewrs779694939
scholarrs779694939
googlers779694939
pharmgkbrs779694939
gwascentralrs779694939
openSNPrs779694939
23andMers779694939
SNPshotrs779694939
SNPdbers779694939
MSV3drs779694939
GWAS Ctlgrs779694939
Max Magnitude0
ClinVar
Risk rs779694939(G;G)
Alt rs779694939(G;G)
Reference Rs779694939(A;A)
Significance Pathogenic
Disease Nonaka myopathy not provided Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Nonaka myopathy not provided Inclusion body myopathy 2
Reversed 0
HGVS NC_000009.11:g.36236951A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202427.1, RCV000255797.1, RCV000407674.1,