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rs745517517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs745517517(A;A)
Make rs745517517(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position36246472
GeneGNE
is asnp
is mentioned by
dbSNPrs745517517
dbSNP (classic)rs745517517
ClinGenrs745517517
ebirs745517517
HLIrs745517517
Exacrs745517517
Gnomadrs745517517
Varsomers745517517
LitVarrs745517517
Maprs745517517
PheGenIrs745517517
Biobankrs745517517
1000 genomesrs745517517
hgdprs745517517
ensemblrs745517517
geneviewrs745517517
scholarrs745517517
googlers745517517
pharmgkbrs745517517
gwascentralrs745517517
openSNPrs745517517
23andMers745517517
SNPshotrs745517517
SNPdbers745517517
MSV3drs745517517
GWAS Ctlgrs745517517
Max Magnitude0
ClinVar
Risk rs745517517(A;A)
Alt rs745517517(A;A)
Reference Rs745517517(G;G)
Significance Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 0
HGVS NC_000009.11:g.36246469G>A
CLNSRC
CLNACC RCV000294239.1,