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rs387906347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906347(A;A)
Make rs387906347(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position36219856
GeneGNE
is asnp
is mentioned by
dbSNPrs387906347
ebirs387906347
HLIrs387906347
Exacrs387906347
Varsomers387906347
Maprs387906347
PheGenIrs387906347
hapmaprs387906347
1000 genomesrs387906347
hgdprs387906347
ensemblrs387906347
gopubmedrs387906347
geneviewrs387906347
scholarrs387906347
googlers387906347
pharmgkbrs387906347
gwascentralrs387906347
openSNPrs387906347
23andMers387906347
23andMe allrs387906347
SNP Nexus

SNPshotrs387906347
SNPdbers387906347
MSV3drs387906347
GWAS Ctlgrs387906347
Max Magnitude0
ClinVar
Risk rs387906347(A;A)
Alt rs387906347(A;A)
Reference rs387906347(G;G)
Significance Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36219853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006398.1,