Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729202
rs794729202
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		T 0.700 GeneticVariation CLINVAR Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 16287098

2005
dbSNP: rs794729202
rs794729202
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		T 0.700 GeneticVariation CLINVAR Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. 9375852

1997