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rs121908633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs121908633(GT;GT)
Make rs121908633(GT;TG)
ReferenceGRCh38 38.1/141
Chromosome9
Position36233994
GeneGNE
is asnp
is mentioned by
dbSNPrs121908633
dbSNP (classic)rs121908633
ClinGenrs121908633
ebirs121908633
HLIrs121908633
Exacrs121908633
Gnomadrs121908633
Varsomers121908633
LitVarrs121908633
Maprs121908633
PheGenIrs121908633
Biobankrs121908633
1000 genomesrs121908633
hgdprs121908633
ensemblrs121908633
geneviewrs121908633
scholarrs121908633
googlers121908633
pharmgkbrs121908633
gwascentralrs121908633
openSNPrs121908633
23andMers121908633
SNPshotrs121908633
SNPdbers121908633
MSV3drs121908633
GWAS Ctlgrs121908633
Max Magnitude0
OMIM603824
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908633(GT;GT)
Alt rs121908633(GT;GT)
Reference Rs121908633(TG;TG)
Significance Pathogenic
Disease Nonaka myopathy
Variation info
Gene GNE
CLNDBN Nonaka myopathy
Reversed 1
HGVS NC_000009.11:g.36233991_36233992delCAinsAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006405.5,