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rs121909095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909095(C;T)
Make rs121909095(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position10823862
GeneDNM2
is asnp
is mentioned by
dbSNPrs121909095
ebirs121909095
HLIrs121909095
Exacrs121909095
Varsomers121909095
Maprs121909095
PheGenIrs121909095
hapmaprs121909095
1000 genomesrs121909095
hgdprs121909095
ensemblrs121909095
gopubmedrs121909095
geneviewrs121909095
scholarrs121909095
googlers121909095
pharmgkbrs121909095
gwascentralrs121909095
openSNPrs121909095
23andMers121909095
23andMe allrs121909095
SNP Nexus

SNPshotrs121909095
SNPdbers121909095
MSV3drs121909095
GWAS Ctlgrs121909095
Merged fromRs121909096
Max Magnitude0
OMIM602378
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121909095(G,T;G,T)
Alt rs121909095(G,T;G,T)
Reference rs121909095(C;C)
Significance Pathogenic
Disease Severe X-linked myotubular myopathy Myopathy
Variation info
Gene DNM2
CLNDBN Severe X-linked myotubular myopathy Myopathy, centronuclear
Reversed 0
HGVS NC_000019.9:g.10934538C>G; NC_000019.9:g.10934538C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007709.2, RCV000007708.2, RCV000145908.1,