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rs121908962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908962(A;A)
Make rs121908962(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71551073
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908962
ebirs121908962
HLIrs121908962
Exacrs121908962
Varsomers121908962
Maprs121908962
PheGenIrs121908962
hapmaprs121908962
1000 genomesrs121908962
hgdprs121908962
ensemblrs121908962
gopubmedrs121908962
geneviewrs121908962
scholarrs121908962
googlers121908962
pharmgkbrs121908962
gwascentralrs121908962
openSNPrs121908962
23andMers121908962
23andMe allrs121908962
SNP Nexus

SNPshotrs121908962
SNPdbers121908962
MSV3drs121908962
GWAS Ctlgrs121908962
Max Magnitude0
OMIM603009
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121908962(A;A)
Alt rs121908962(A;A)
Reference rs121908962(G;G)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1
Reversed 0
HGVS NC_000002.11:g.71778203G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007066.3,