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rs786204558

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204558(C;T)
Make rs786204558(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position36223478
GeneGNE
is asnp
is mentioned by
dbSNPrs786204558
dbSNP (classic)rs786204558
ClinGenrs786204558
ebirs786204558
HLIrs786204558
Exacrs786204558
Gnomadrs786204558
Varsomers786204558
LitVarrs786204558
Maprs786204558
PheGenIrs786204558
Biobankrs786204558
1000 genomesrs786204558
hgdprs786204558
ensemblrs786204558
geneviewrs786204558
scholarrs786204558
googlers786204558
pharmgkbrs786204558
gwascentralrs786204558
openSNPrs786204558
23andMers786204558
SNPshotrs786204558
SNPdbers786204558
MSV3drs786204558
GWAS Ctlgrs786204558
Max Magnitude0
ClinVar
Risk rs786204558(T;T)
Alt rs786204558(T;T)
Reference Rs786204558(C;C)
Significance Probable-Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene GNE
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36223475G>A
CLNSRC
CLNACC RCV000169277.1,