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rs121908953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908953(C;T)
Make rs121908953(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71553071
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908953
ebirs121908953
HLIrs121908953
Exacrs121908953
Varsomers121908953
Maprs121908953
PheGenIrs121908953
hapmaprs121908953
1000 genomesrs121908953
hgdprs121908953
ensemblrs121908953
gopubmedrs121908953
geneviewrs121908953
scholarrs121908953
googlers121908953
pharmgkbrs121908953
gwascentralrs121908953
openSNPrs121908953
23andMers121908953
23andMe allrs121908953
SNP Nexus

SNPshotrs121908953
SNPdbers121908953
MSV3drs121908953
GWAS Ctlgrs121908953
Max Magnitude0
OMIM603009
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908953(T;T)
Alt rs121908953(T;T)
Reference rs121908953(C;C)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71780201C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007047.4,