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rs121908955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908955(C;T)
Make rs121908955(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position71682597
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908955
ebirs121908955
HLIrs121908955
Exacrs121908955
Varsomers121908955
Maprs121908955
PheGenIrs121908955
hapmaprs121908955
1000 genomesrs121908955
hgdprs121908955
ensemblrs121908955
gopubmedrs121908955
geneviewrs121908955
scholarrs121908955
googlers121908955
pharmgkbrs121908955
gwascentralrs121908955
openSNPrs121908955
23andMers121908955
23andMe allrs121908955
SNP Nexus

SNPshotrs121908955
SNPdbers121908955
MSV3drs121908955
GWAS Ctlgrs121908955
Max Magnitude0
OMIM603009
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908955(T;T)
Alt rs121908955(T;T)
Reference rs121908955(C;C)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy not provided
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B not provided
Reversed 0
HGVS NC_000002.11:g.71909727C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007051.4, RCV000007052.5, RCV000080320.3,