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rs1057516340

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTGTTAC;TTTGTTAC) 0 common in clinvar
Make rs1057516340(-;-)
Make rs1057516340(-;TTTGTTAC)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36222794
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516340
dbSNP (classic)rs1057516340
ClinGenrs1057516340
ebirs1057516340
HLIrs1057516340
Exacrs1057516340
Gnomadrs1057516340
Varsomers1057516340
LitVarrs1057516340
Maprs1057516340
PheGenIrs1057516340
Biobankrs1057516340
1000 genomesrs1057516340
hgdprs1057516340
ensemblrs1057516340
geneviewrs1057516340
scholarrs1057516340
googlers1057516340
pharmgkbrs1057516340
gwascentralrs1057516340
openSNPrs1057516340
23andMers1057516340
23andMe allrs1057516340
SNPshotrs1057516340
SNPdbers1057516340
MSV3drs1057516340
GWAS Ctlgrs1057516340
Max Magnitude0
ClinVar
Risk rs1057516340(-;-)
Alt rs1057516340(-;-)
Reference Rs1057516340(TTTGTTAC;TTTGTTAC)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36222791_36222798delGTAACAAA
CLNSRC
CLNACC RCV000409537.1,