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rs121908627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908627(A;A)
Make rs121908627(A;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position36217448
GeneGNE
is asnp
is mentioned by
dbSNPrs121908627
dbSNP (classic)rs121908627
ClinGenrs121908627
ebirs121908627
HLIrs121908627
Exacrs121908627
Gnomadrs121908627
Varsomers121908627
LitVarrs121908627
Maprs121908627
PheGenIrs121908627
Biobankrs121908627
1000 genomesrs121908627
hgdprs121908627
ensemblrs121908627
geneviewrs121908627
scholarrs121908627
googlers121908627
pharmgkbrs121908627
gwascentralrs121908627
openSNPrs121908627
23andMers121908627
SNPshotrs121908627
SNPdbers121908627
MSV3drs121908627
GWAS Ctlgrs121908627
GMAF0.0
Max Magnitude0
OMIM603824
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908627(A;A) rs121908627(T;T)
Alt rs121908627(A;A) rs121908627(T;T)
Reference Rs121908627(G;G)
Significance Other
Disease not specified Nonaka myopathy Sialuria Inclusion Body Myopathy not provided Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN not specified Nonaka myopathy Sialuria Inclusion Body Myopathy, Recessive not provided Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36217445C>A; NC_000009.11:g.36217445C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000255396.2, RCV000277092.1, RCV000315879.1, RCV000372863.1, RCV000430334.1, RCV000006399.8, RCV000202424.2, RCV000255973.1, RCV000363110.1, RCV000477793.1,