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rs121908954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908954(A;G)
Make rs121908954(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position71602794
GeneDYSF
is asnp
is mentioned by
dbSNPrs121908954
ebirs121908954
HLIrs121908954
Exacrs121908954
Varsomers121908954
Maprs121908954
PheGenIrs121908954
hapmaprs121908954
1000 genomesrs121908954
hgdprs121908954
ensemblrs121908954
gopubmedrs121908954
geneviewrs121908954
scholarrs121908954
googlers121908954
pharmgkbrs121908954
gwascentralrs121908954
openSNPrs121908954
23andMers121908954
23andMe allrs121908954
SNP Nexus

SNPshotrs121908954
SNPdbers121908954
MSV3drs121908954
GWAS Ctlgrs121908954
GMAF0.002296
Max Magnitude0
OMIM603009
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908954(G;G)
Alt rs121908954(G;G)
Reference rs121908954(A;A)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy not specified
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B not specified
Reversed 0
HGVS NC_000002.11:g.71829924A>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007049.4, RCV000007050.4, RCV000153183.3,