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rs121908632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908632(C;C)
Make rs121908632(C;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position36219940
GeneGNE
is asnp
is mentioned by
dbSNPrs121908632
dbSNP (classic)rs121908632
ClinGenrs121908632
ebirs121908632
HLIrs121908632
Exacrs121908632
Gnomadrs121908632
Varsomers121908632
LitVarrs121908632
Maprs121908632
PheGenIrs121908632
Biobankrs121908632
1000 genomesrs121908632
hgdprs121908632
ensemblrs121908632
geneviewrs121908632
scholarrs121908632
googlers121908632
pharmgkbrs121908632
gwascentralrs121908632
openSNPrs121908632
23andMers121908632
SNPshotrs121908632
SNPdbers121908632
MSV3drs121908632
GWAS Ctlgrs121908632
GMAF0.0004591
Max Magnitude0
OMIM603824
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908632(C;C)
Alt rs121908632(C;C)
Reference Rs121908632(G;G)
Significance Pathogenic
Disease Nonaka myopathy Inclusion body myopathy 2 Sialuria
Variation info
Gene GNE
CLNDBN Nonaka myopathy Inclusion body myopathy 2 Sialuria
Reversed 1
HGVS NC_000009.11:g.36219937C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006404.7, RCV000173728.1, RCV000268972.1,