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rs121908959

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908959(C;T)
Make rs121908959(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71674242
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908959
ebirs121908959
HLIrs121908959
Exacrs121908959
Varsomers121908959
Maprs121908959
PheGenIrs121908959
hapmaprs121908959
1000 genomesrs121908959
hgdprs121908959
ensemblrs121908959
gopubmedrs121908959
geneviewrs121908959
scholarrs121908959
googlers121908959
pharmgkbrs121908959
gwascentralrs121908959
openSNPrs121908959
23andMers121908959
23andMe allrs121908959
SNP Nexus

SNPshotrs121908959
SNPdbers121908959
MSV3drs121908959
GWAS Ctlgrs121908959
Max Magnitude0
OMIM603009
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908959(T;T)
Alt rs121908959(T;T)
Reference rs121908959(C;C)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 Myopathy Limb-girdle muscular dystrophy not provided
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 Myopathy, distal, with anterior tibial onset Limb-girdle muscular dystrophy, type 2B not provided
Reversed 0
HGVS NC_000002.11:g.71901372C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007061.4, RCV000007062.4, RCV000007063.5, RCV000080312.3,