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rs1057517157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517157(-;-)
Make rs1057517157(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36219873
GeneGNE
is asnp
is mentioned by
dbSNPrs1057517157
dbSNP (classic)rs1057517157
ClinGenrs1057517157
ebirs1057517157
HLIrs1057517157
Exacrs1057517157
Gnomadrs1057517157
Varsomers1057517157
LitVarrs1057517157
Maprs1057517157
PheGenIrs1057517157
Biobankrs1057517157
1000 genomesrs1057517157
hgdprs1057517157
ensemblrs1057517157
geneviewrs1057517157
scholarrs1057517157
googlers1057517157
pharmgkbrs1057517157
gwascentralrs1057517157
openSNPrs1057517157
23andMers1057517157
SNPshotrs1057517157
SNPdbers1057517157
MSV3drs1057517157
GWAS Ctlgrs1057517157
Max Magnitude0
ClinVar
Risk rs1057517157(-;-)
Alt rs1057517157(-;-)
Reference Rs1057517157(T;T)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36219870delA
CLNSRC
CLNACC RCV000411425.1,