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rs1057516374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516374(C;T)
Make rs1057516374(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36233986
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516374
dbSNP (classic)rs1057516374
ClinGenrs1057516374
ebirs1057516374
HLIrs1057516374
Exacrs1057516374
Gnomadrs1057516374
Varsomers1057516374
LitVarrs1057516374
Maprs1057516374
PheGenIrs1057516374
Biobankrs1057516374
1000 genomesrs1057516374
hgdprs1057516374
ensemblrs1057516374
geneviewrs1057516374
scholarrs1057516374
googlers1057516374
pharmgkbrs1057516374
gwascentralrs1057516374
openSNPrs1057516374
23andMers1057516374
23andMe allrs1057516374
SNPshotrs1057516374
SNPdbers1057516374
MSV3drs1057516374
GWAS Ctlgrs1057516374
Max Magnitude0
ClinVar
Risk rs1057516374(T;T)
Alt rs1057516374(T;T)
Reference Rs1057516374(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.36233983G>A
CLNSRC
CLNACC RCV000409849.1,