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rs121908958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908958(A;A)
Make rs121908958(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71570704
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908958
ebirs121908958
HLIrs121908958
Exacrs121908958
Varsomers121908958
Maprs121908958
PheGenIrs121908958
hapmaprs121908958
1000 genomesrs121908958
hgdprs121908958
ensemblrs121908958
gopubmedrs121908958
geneviewrs121908958
scholarrs121908958
googlers121908958
pharmgkbrs121908958
gwascentralrs121908958
openSNPrs121908958
23andMers121908958
23andMe allrs121908958
SNP Nexus

SNPshotrs121908958
SNPdbers121908958
MSV3drs121908958
GWAS Ctlgrs121908958
Merged fromRs28939700
Max Magnitude0
OMIM603009
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908958(A;A)
Alt rs121908958(A;A)
Reference rs121908958(G;G)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 not provided Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71797834G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007060.3, RCV000080266.3, RCV000176936.1,