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rs794727636

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727636(C;T)
Make rs794727636(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71503242
GeneDYSF
is asnp
is mentioned by
dbSNPrs794727636
ebirs794727636
HLIrs794727636
Exacrs794727636
Varsomers794727636
Maprs794727636
PheGenIrs794727636
hapmaprs794727636
1000 genomesrs794727636
hgdprs794727636
ensemblrs794727636
gopubmedrs794727636
geneviewrs794727636
scholarrs794727636
googlers794727636
pharmgkbrs794727636
gwascentralrs794727636
openSNPrs794727636
23andMers794727636
23andMe allrs794727636
SNP Nexus

SNPshotrs794727636
SNPdbers794727636
MSV3drs794727636
GWAS Ctlgrs794727636
Max Magnitude0
ClinVar
Risk rs794727636(T;T)
Alt rs794727636(T;T)
Reference rs794727636(C;C)
Significance Pathogenic
Disease Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71730372C>T
CLNSRC
CLNACC RCV000178194.1, RCV000178195.1,