Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908675
rs121908675
LARGE1
0.800 GeneticVariation UNIPROT Consensus statement on standard of care for congenital muscular dystrophies. 21078917

2010
dbSNP: rs121908675
rs121908675
LARGE1
0.800 GeneticVariation UNIPROT Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. 12966029

2003
dbSNP: rs121908675
rs121908675
LARGE1
T 0.800 CausalMutation CLINVAR