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rs121908957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs121908957(AT;AT)
Make rs121908957(AT;TG)
ReferenceGRCh38 38.1/141
Chromosome2
Position71481934
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908957
ebirs121908957
HLIrs121908957
Exacrs121908957
Varsomers121908957
Maprs121908957
PheGenIrs121908957
hapmaprs121908957
1000 genomesrs121908957
hgdprs121908957
ensemblrs121908957
gopubmedrs121908957
geneviewrs121908957
scholarrs121908957
googlers121908957
pharmgkbrs121908957
gwascentralrs121908957
openSNPrs121908957
23andMers121908957
23andMe allrs121908957
SNP Nexus

SNPshotrs121908957
SNPdbers121908957
MSV3drs121908957
GWAS Ctlgrs121908957
Max Magnitude0
OMIM603009
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908957(AT;AT)
Alt rs121908957(AT;AT)
Reference rs121908957(TG;TG)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71709064_71709065delTGinsAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007058.4, RCV000170323.3,