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rs387906348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906348(A;A)
Make rs387906348(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position36217541
GeneGNE
is asnp
is mentioned by
dbSNPrs387906348
ebirs387906348
HLIrs387906348
Exacrs387906348
Varsomers387906348
Maprs387906348
PheGenIrs387906348
hapmaprs387906348
1000 genomesrs387906348
hgdprs387906348
ensemblrs387906348
gopubmedrs387906348
geneviewrs387906348
scholarrs387906348
googlers387906348
pharmgkbrs387906348
gwascentralrs387906348
openSNPrs387906348
23andMers387906348
23andMe allrs387906348
SNP Nexus

SNPshotrs387906348
SNPdbers387906348
MSV3drs387906348
GWAS Ctlgrs387906348
Max Magnitude0
ClinVar
Risk rs387906348(A;A)
Alt rs387906348(A;A)
Reference rs387906348(G;G)
Significance Pathogenic
Disease Inclusion body myopathy 2
Variation info
Gene
CLNDBN Inclusion body myopathy 2
Reversed 1
HGVS NC_000009.11:g.36217538C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006399.1,