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rs121909090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909090(C;T)
Make rs121909090(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position10793832
GeneDNM2
is asnp
is mentioned by
dbSNPrs121909090
ebirs121909090
HLIrs121909090
Exacrs121909090
Varsomers121909090
Maprs121909090
PheGenIrs121909090
hapmaprs121909090
1000 genomesrs121909090
hgdprs121909090
ensemblrs121909090
gopubmedrs121909090
geneviewrs121909090
scholarrs121909090
googlers121909090
pharmgkbrs121909090
gwascentralrs121909090
openSNPrs121909090
23andMers121909090
23andMe allrs121909090
SNP Nexus

SNPshotrs121909090
SNPdbers121909090
MSV3drs121909090
GWAS Ctlgrs121909090
Max Magnitude0
OMIM602378
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909090(T;T)
Alt rs121909090(T;T)
Reference rs121909090(C;C)
Significance Pathogenic
Disease Myopathy
Variation info
Gene DNM2
CLNDBN Myopathy, centronuclear, 1 Myopathy, centronuclear
Reversed 0
HGVS NC_000019.9:g.10904508C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007703.2, RCV000145899.1,