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rs121908630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908630(A;A)
Make rs121908630(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position36236928
GeneGNE
is asnp
is mentioned by
dbSNPrs121908630
dbSNP (classic)rs121908630
ClinGenrs121908630
ebirs121908630
HLIrs121908630
Exacrs121908630
Gnomadrs121908630
Varsomers121908630
LitVarrs121908630
Maprs121908630
PheGenIrs121908630
Biobankrs121908630
1000 genomesrs121908630
hgdprs121908630
ensemblrs121908630
geneviewrs121908630
scholarrs121908630
googlers121908630
pharmgkbrs121908630
gwascentralrs121908630
openSNPrs121908630
23andMers121908630
SNPshotrs121908630
SNPdbers121908630
MSV3drs121908630
GWAS Ctlgrs121908630
Max Magnitude0
OMIM603824
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908630(A;A)
Alt rs121908630(A;A)
Reference Rs121908630(G;G)
Significance Pathogenic
Disease Nonaka myopathy
Variation info
Gene GNE
CLNDBN Nonaka myopathy
Reversed 1
HGVS NC_000009.11:g.36236925C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006402.4,