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rs1057516798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516798(C;C)
Make rs1057516798(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36222887
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516798
dbSNP (classic)rs1057516798
ClinGenrs1057516798
ebirs1057516798
HLIrs1057516798
Exacrs1057516798
Gnomadrs1057516798
Varsomers1057516798
LitVarrs1057516798
Maprs1057516798
PheGenIrs1057516798
Biobankrs1057516798
1000 genomesrs1057516798
hgdprs1057516798
ensemblrs1057516798
geneviewrs1057516798
scholarrs1057516798
googlers1057516798
pharmgkbrs1057516798
gwascentralrs1057516798
openSNPrs1057516798
23andMers1057516798
23andMe allrs1057516798
SNPshotrs1057516798
SNPdbers1057516798
MSV3drs1057516798
GWAS Ctlgrs1057516798
Max Magnitude0
ClinVar
Risk rs1057516798(C;C)
Alt rs1057516798(C;C)
Reference Rs1057516798(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.36222884A>G
CLNSRC
CLNACC RCV000411466.1,