Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193919336
rs193919336
0.700 GeneticVariation UNIPROT Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009

dbSNP: rs193919336
rs193919336
0.700 GeneticVariation UNIPROT Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. 19067344

2008

dbSNP: rs193919336
rs193919336
0.700 GeneticVariation UNIPROT POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669

2006