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rs121908628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908628(A;A)
Make rs121908628(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position36233993
GeneGNE
is asnp
is mentioned by
dbSNPrs121908628
dbSNP (classic)rs121908628
ClinGenrs121908628
ebirs121908628
HLIrs121908628
Exacrs121908628
Gnomadrs121908628
Varsomers121908628
LitVarrs121908628
Maprs121908628
PheGenIrs121908628
Biobankrs121908628
1000 genomesrs121908628
hgdprs121908628
ensemblrs121908628
geneviewrs121908628
scholarrs121908628
googlers121908628
pharmgkbrs121908628
gwascentralrs121908628
openSNPrs121908628
23andMers121908628
SNPshotrs121908628
SNPdbers121908628
MSV3drs121908628
GWAS Ctlgrs121908628
Max Magnitude0
OMIM603824
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908628(A;A)
Alt rs121908628(A;A)
Reference Rs121908628(T;T)
Significance Pathogenic
Disease Nonaka myopathy
Variation info
Gene GNE
CLNDBN Nonaka myopathy
Reversed 1
HGVS NC_000009.11:g.36233990A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006400.4,