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rs121908625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908625(A;A)
Make rs121908625(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position36219927
GeneGNE
is asnp
is mentioned by
dbSNPrs121908625
dbSNP (classic)rs121908625
ClinGenrs121908625
ebirs121908625
HLIrs121908625
Exacrs121908625
Gnomadrs121908625
Varsomers121908625
LitVarrs121908625
Maprs121908625
PheGenIrs121908625
Biobankrs121908625
1000 genomesrs121908625
hgdprs121908625
ensemblrs121908625
geneviewrs121908625
scholarrs121908625
googlers121908625
pharmgkbrs121908625
gwascentralrs121908625
openSNPrs121908625
23andMers121908625
SNPshotrs121908625
SNPdbers121908625
MSV3drs121908625
GWAS Ctlgrs121908625
Max Magnitude0
OMIM603824
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908625(A;A)
Alt rs121908625(A;A)
Reference Rs121908625(G;G)
Significance Pathogenic
Disease Nonaka myopathy
Variation info
Gene GNE
CLNDBN Nonaka myopathy
Reversed 1
HGVS NC_000009.11:g.36219924C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006397.4,