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rs794727851

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727851(G;T)
Make rs794727851(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position71515749
GeneDYSF
is asnp
is mentioned by
dbSNPrs794727851
ebirs794727851
HLIrs794727851
Exacrs794727851
Varsomers794727851
Maprs794727851
PheGenIrs794727851
hapmaprs794727851
1000 genomesrs794727851
hgdprs794727851
ensemblrs794727851
gopubmedrs794727851
geneviewrs794727851
scholarrs794727851
googlers794727851
pharmgkbrs794727851
gwascentralrs794727851
openSNPrs794727851
23andMers794727851
23andMe allrs794727851
SNP Nexus

SNPshotrs794727851
SNPdbers794727851
MSV3drs794727851
GWAS Ctlgrs794727851
Max Magnitude0
ClinVar
Risk rs794727851(T;T)
Alt rs794727851(T;T)
Reference rs794727851(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene DYSF
CLNDBN Limb-girdle muscular dystrophy, type 2B
Reversed 0
HGVS NC_000002.11:g.71742879G>T
CLNSRC
CLNACC RCV000179815.1,