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rs121434457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434457(A;A)
Make rs121434457(A;G)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position5650
GeneSKA1
is asnp
is mentioned by
dbSNPrs121434457
ebirs121434457
HLIrs121434457
Exacrs121434457
Varsomers121434457
Maprs121434457
PheGenIrs121434457
hapmaprs121434457
1000 genomesrs121434457
hgdprs121434457
ensemblrs121434457
gopubmedrs121434457
geneviewrs121434457
scholarrs121434457
googlers121434457
pharmgkbrs121434457
gwascentralrs121434457
openSNPrs121434457
23andMers121434457
23andMe allrs121434457
SNP Nexus

SNPshotrs121434457
SNPdbers121434457
MSV3drs121434457
GWAS Ctlgrs121434457
Max Magnitude0
ClinVar
Risk rs121434457(A;A)
Alt rs121434457(A;A)
Reference rs121434457(G;G)
Significance Pathogenic
Disease Myotonic dystrophy-like myopathy
Variation info
Gene
CLNDBN Myotonic dystrophy-like myopathy
Reversed 0
HGVS NC_012920.1:m.5650G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010250.2,