Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727343

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727343(A;A)
Make rs794727343(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71553832
GeneDYSF
is asnp
is mentioned by
dbSNPrs794727343
ebirs794727343
HLIrs794727343
Exacrs794727343
Varsomers794727343
Maprs794727343
PheGenIrs794727343
hapmaprs794727343
1000 genomesrs794727343
hgdprs794727343
ensemblrs794727343
gopubmedrs794727343
geneviewrs794727343
scholarrs794727343
googlers794727343
pharmgkbrs794727343
gwascentralrs794727343
openSNPrs794727343
23andMers794727343
23andMe allrs794727343
SNP Nexus

SNPshotrs794727343
SNPdbers794727343
MSV3drs794727343
GWAS Ctlgrs794727343
Max Magnitude0
ClinVar
Risk rs794727343(A;A)
Alt rs794727343(A;A)
Reference rs794727343(G;G)
Significance 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.71780962G>A
CLNSRC
CLNACC RCV000176198.1, RCV000176199.1, RCV000176200.1,