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rs794727534

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727534(A;A)
Make rs794727534(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71574253
GeneDYSF
is asnp
is mentioned by
dbSNPrs794727534
ebirs794727534
HLIrs794727534
Exacrs794727534
Varsomers794727534
Maprs794727534
PheGenIrs794727534
hapmaprs794727534
1000 genomesrs794727534
hgdprs794727534
ensemblrs794727534
gopubmedrs794727534
geneviewrs794727534
scholarrs794727534
googlers794727534
pharmgkbrs794727534
gwascentralrs794727534
openSNPrs794727534
23andMers794727534
23andMe allrs794727534
SNP Nexus

SNPshotrs794727534
SNPdbers794727534
MSV3drs794727534
GWAS Ctlgrs794727534
Max Magnitude0
ClinVar
Risk rs794727534(A;A)
Alt rs794727534(A;A)
Reference rs794727534(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.71801383G>A
CLNSRC
CLNACC RCV000177464.1, RCV000177465.1,