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rs748704459

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs748704459(C;T)
Make rs748704459(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position36246261
GeneGNE
is asnp
is mentioned by
dbSNPrs748704459
ebirs748704459
HLIrs748704459
Exacrs748704459
Varsomers748704459
Maprs748704459
PheGenIrs748704459
hapmaprs748704459
1000 genomesrs748704459
hgdprs748704459
ensemblrs748704459
gopubmedrs748704459
geneviewrs748704459
scholarrs748704459
googlers748704459
pharmgkbrs748704459
gwascentralrs748704459
openSNPrs748704459
23andMers748704459
23andMe allrs748704459
SNP Nexus

SNPshotrs748704459
SNPdbers748704459
MSV3drs748704459
GWAS Ctlgrs748704459
Max Magnitude0
ClinVar
Risk rs748704459(T;T)
Alt rs748704459(T;T)
Reference rs748704459(C;C)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 0
HGVS NC_000009.11:g.36246258C>T
CLNSRC
CLNACC RCV000169582.1,