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rs1057516915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TATC;TATC) 0 common in clinvar
Make rs1057516915(-;-)
Make rs1057516915(-;TATC)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36246209
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516915
dbSNP (classic)rs1057516915
ClinGenrs1057516915
ebirs1057516915
HLIrs1057516915
Exacrs1057516915
Gnomadrs1057516915
Varsomers1057516915
LitVarrs1057516915
Maprs1057516915
PheGenIrs1057516915
Biobankrs1057516915
1000 genomesrs1057516915
hgdprs1057516915
ensemblrs1057516915
geneviewrs1057516915
scholarrs1057516915
googlers1057516915
pharmgkbrs1057516915
gwascentralrs1057516915
openSNPrs1057516915
23andMers1057516915
SNPshotrs1057516915
SNPdbers1057516915
MSV3drs1057516915
GWAS Ctlgrs1057516915
Max Magnitude0
ClinVar
Risk rs1057516915(-;-)
Alt rs1057516915(-;-)
Reference Rs1057516915(TATC;TATC)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36246206_36246209delGATA
CLNSRC
CLNACC RCV000411234.1,