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rs121909096

From SNPedia

Merged intors121909095
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909096(C;G)
Make rs121909096(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position10823862
GeneDNM2
is asnp
is mentioned by
dbSNPrs121909096
ebirs121909096
HLIrs121909096
Exacrs121909096
Varsomers121909096
Maprs121909096
PheGenIrs121909096
hapmaprs121909096
1000 genomesrs121909096
hgdprs121909096
ensemblrs121909096
gopubmedrs121909096
geneviewrs121909096
scholarrs121909096
googlers121909096
pharmgkbrs121909096
gwascentralrs121909096
openSNPrs121909096
23andMers121909096
23andMe allrs121909096
SNP Nexus

SNPshotrs121909096
SNPdbers121909096
MSV3drs121909096
GWAS Ctlgrs121909096
StatusMerged into rs121909095
Max Magnitude0
OMIM602378
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909096(G;G)
Alt rs121909096(G;G)
Reference rs121909096(C;C)
Significance Pathogenic
Disease Severe x-linked myotubular myopathy
Variation info
Gene DNM2
CLNDBN Severe x-linked myotubular myopathy
Reversed 0
HGVS NC_000019.9:g.10934538C>G
CLNSRC OMIM Allelic Variant
CLNACC SCV000027910.1,