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rs1057516364

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516364(C;C)
Make rs1057516364(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position36227267
GeneGNE
is asnp
is mentioned by
dbSNPrs1057516364
dbSNP (old)rs1057516364
ClinGenrs1057516364
ebirs1057516364
HLIrs1057516364
Exacrs1057516364
Gnomadrs1057516364
Varsomers1057516364
Maprs1057516364
PheGenIrs1057516364
Biobankrs1057516364
1000 genomesrs1057516364
hgdprs1057516364
ensemblrs1057516364
gopubmedrs1057516364
geneviewrs1057516364
scholarrs1057516364
googlers1057516364
pharmgkbrs1057516364
gwascentralrs1057516364
openSNPrs1057516364
23andMers1057516364
23andMe allrs1057516364
SNPshotrs1057516364
SNPdbers1057516364
MSV3drs1057516364
GWAS Ctlgrs1057516364
Max Magnitude0
ClinVar
Risk rs1057516364(C;C)
Alt rs1057516364(C;C)
Reference Rs1057516364(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.36227264A>G
CLNSRC
CLNACC RCV000410389.1,