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rs1057516746

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516746(C;T)
Make rs1057516746(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36234046
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516746
dbSNP (old)rs1057516746
ClinGenrs1057516746
ebirs1057516746
HLIrs1057516746
Exacrs1057516746
Gnomadrs1057516746
Varsomers1057516746
Maprs1057516746
PheGenIrs1057516746
Biobankrs1057516746
1000 genomesrs1057516746
hgdprs1057516746
ensemblrs1057516746
gopubmedrs1057516746
geneviewrs1057516746
scholarrs1057516746
googlers1057516746
pharmgkbrs1057516746
gwascentralrs1057516746
openSNPrs1057516746
23andMers1057516746
23andMe allrs1057516746
SNPshotrs1057516746
SNPdbers1057516746
MSV3drs1057516746
GWAS Ctlgrs1057516746
Max Magnitude0
ClinVar
Risk rs1057516746(T;T)
Alt rs1057516746(T;T)
Reference Rs1057516746(C;C)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36234043G>A
CLNSRC
CLNACC RCV000409391.1,