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rs1057516965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516965(-;-)
Make rs1057516965(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36222993
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516965
dbSNP (classic)rs1057516965
ClinGenrs1057516965
ebirs1057516965
HLIrs1057516965
Exacrs1057516965
Gnomadrs1057516965
Varsomers1057516965
LitVarrs1057516965
Maprs1057516965
PheGenIrs1057516965
Biobankrs1057516965
1000 genomesrs1057516965
hgdprs1057516965
ensemblrs1057516965
geneviewrs1057516965
scholarrs1057516965
googlers1057516965
pharmgkbrs1057516965
gwascentralrs1057516965
openSNPrs1057516965
23andMers1057516965
SNPshotrs1057516965
SNPdbers1057516965
MSV3drs1057516965
GWAS Ctlgrs1057516965
Max Magnitude0
ClinVar
Risk rs1057516965(-;-)
Alt rs1057516965(-;-)
Reference Rs1057516965(T;T)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36222990delA
CLNSRC
CLNACC RCV000411761.1,