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rs121908634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908634(A;G)
Make rs121908634(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position36246136
GeneGNE
is asnp
is mentioned by
dbSNPrs121908634
dbSNP (classic)rs121908634
ClinGenrs121908634
ebirs121908634
HLIrs121908634
Exacrs121908634
Gnomadrs121908634
Varsomers121908634
LitVarrs121908634
Maprs121908634
PheGenIrs121908634
Biobankrs121908634
1000 genomesrs121908634
hgdprs121908634
ensemblrs121908634
geneviewrs121908634
scholarrs121908634
googlers121908634
pharmgkbrs121908634
gwascentralrs121908634
openSNPrs121908634
23andMers121908634
SNPshotrs121908634
SNPdbers121908634
MSV3drs121908634
GWAS Ctlgrs121908634
Max Magnitude0
OMIM603824
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908634(G;G)
Alt rs121908634(G;G)
Reference Rs121908634(A;A)
Significance Pathogenic
Disease Nonaka myopathy
Variation info
Gene GNE
CLNDBN Nonaka myopathy
Reversed 1
HGVS NC_000009.11:g.36246133T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006407.5,