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rs121908956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908956(C;G)
Make rs121908956(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71564074
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908956
ebirs121908956
HLIrs121908956
Exacrs121908956
Varsomers121908956
Maprs121908956
PheGenIrs121908956
hapmaprs121908956
1000 genomesrs121908956
hgdprs121908956
ensemblrs121908956
gopubmedrs121908956
geneviewrs121908956
scholarrs121908956
googlers121908956
pharmgkbrs121908956
gwascentralrs121908956
openSNPrs121908956
23andMers121908956
23andMe allrs121908956
SNP Nexus

SNPshotrs121908956
SNPdbers121908956
MSV3drs121908956
GWAS Ctlgrs121908956
Max Magnitude0
OMIM603009
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908956(G;G)
Alt rs121908956(G;G)
Reference rs121908956(C;C)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 not provided
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 not provided
Reversed 0
HGVS NC_000002.11:g.71791204C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007055.5, RCV000007056.4, RCV000080252.3,