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rs1057516705

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516705(-;-)
Make rs1057516705(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36223501
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516705
dbSNP (old)rs1057516705
ClinGenrs1057516705
ebirs1057516705
HLIrs1057516705
Exacrs1057516705
Gnomadrs1057516705
Varsomers1057516705
Maprs1057516705
PheGenIrs1057516705
Biobankrs1057516705
1000 genomesrs1057516705
hgdprs1057516705
ensemblrs1057516705
gopubmedrs1057516705
geneviewrs1057516705
scholarrs1057516705
googlers1057516705
pharmgkbrs1057516705
gwascentralrs1057516705
openSNPrs1057516705
23andMers1057516705
23andMe allrs1057516705
SNPshotrs1057516705
SNPdbers1057516705
MSV3drs1057516705
GWAS Ctlgrs1057516705
Max Magnitude0
ClinVar
Risk rs1057516705(-;-)
Alt rs1057516705(-;-)
Reference Rs1057516705(G;G)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36223498delC
CLNSRC
CLNACC RCV000411568.1,