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rs794727279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727279(C;T)
Make rs794727279(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position36249370
GeneGNE
is asnp
is mentioned by
dbSNPrs794727279
dbSNP (classic)rs794727279
ClinGenrs794727279
ebirs794727279
HLIrs794727279
Exacrs794727279
Gnomadrs794727279
Varsomers794727279
LitVarrs794727279
Maprs794727279
PheGenIrs794727279
Biobankrs794727279
1000 genomesrs794727279
hgdprs794727279
ensemblrs794727279
geneviewrs794727279
scholarrs794727279
googlers794727279
pharmgkbrs794727279
gwascentralrs794727279
openSNPrs794727279
23andMers794727279
SNPshotrs794727279
SNPdbers794727279
MSV3drs794727279
GWAS Ctlgrs794727279
Max Magnitude0
ClinVar
Risk rs794727279(T;T)
Alt rs794727279(T;T)
Reference Rs794727279(C;C)
Significance Pathogenic
Disease not specified Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN not specified Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36249367G>A
CLNSRC
CLNACC RCV000175805.1, RCV000383627.1,