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rs1057516597

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516597(-;-)
Make rs1057516597(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36223372
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516597
dbSNP (old)rs1057516597
ClinGenrs1057516597
ebirs1057516597
HLIrs1057516597
Exacrs1057516597
Gnomadrs1057516597
Varsomers1057516597
Maprs1057516597
PheGenIrs1057516597
Biobankrs1057516597
1000 genomesrs1057516597
hgdprs1057516597
ensemblrs1057516597
gopubmedrs1057516597
geneviewrs1057516597
scholarrs1057516597
googlers1057516597
pharmgkbrs1057516597
gwascentralrs1057516597
openSNPrs1057516597
23andMers1057516597
23andMe allrs1057516597
SNPshotrs1057516597
SNPdbers1057516597
MSV3drs1057516597
GWAS Ctlgrs1057516597
Max Magnitude0
ClinVar
Risk rs1057516597(-;-)
Alt rs1057516597(-;-)
Reference Rs1057516597(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.36223369delC
CLNSRC
CLNACC RCV000411440.1,