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rs121908963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908963(A;A)
Make rs121908963(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71517028
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908963
ebirs121908963
HLIrs121908963
Exacrs121908963
Varsomers121908963
Maprs121908963
PheGenIrs121908963
hapmaprs121908963
1000 genomesrs121908963
hgdprs121908963
ensemblrs121908963
gopubmedrs121908963
geneviewrs121908963
scholarrs121908963
googlers121908963
pharmgkbrs121908963
gwascentralrs121908963
openSNPrs121908963
23andMers121908963
23andMe allrs121908963
SNP Nexus

SNPshotrs121908963
SNPdbers121908963
MSV3drs121908963
GWAS Ctlgrs121908963
Merged fromRs121908964
Max Magnitude0
OMIM603009
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121908963(A,C,T;A,C,T)
Alt rs121908963(A,C,T;A,C,T)
Reference rs121908963(G;G)
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.71744158G>A; NC_000002.11:g.71744158G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007068.3, RCV000007069.3,