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rs779987458

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779987458(A;A)
Make rs779987458(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71665182
GeneDYSF
is asnp
is mentioned by
dbSNPrs779987458
ebirs779987458
HLIrs779987458
Exacrs779987458
Varsomers779987458
Maprs779987458
PheGenIrs779987458
hapmaprs779987458
1000 genomesrs779987458
hgdprs779987458
ensemblrs779987458
gopubmedrs779987458
geneviewrs779987458
scholarrs779987458
googlers779987458
pharmgkbrs779987458
gwascentralrs779987458
openSNPrs779987458
23andMers779987458
23andMe allrs779987458
SNP Nexus

SNPshotrs779987458
SNPdbers779987458
MSV3drs779987458
GWAS Ctlgrs779987458
Max Magnitude0
ClinVar
Risk rs779987458(A;A)
Alt rs779987458(A;A)
Reference rs779987458(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 Myopathy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 Myopathy, distal, with anterior tibial onset
Reversed 0
HGVS NC_000002.11:g.71892312G>A
CLNSRC
CLNACC RCV000198403.1,