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: rs911452920
rs911452920
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.010 GeneticVariation BEFREE The p.Q12X and p.Y254X were associated with severe MPS IVA phenotype. 27825773

2017
dbSNP: rs755832705
rs755832705
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.800 GeneticVariation UNIPROT Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). 7581409

1995
dbSNP: rs866745731
rs866745731
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.700 GeneticVariation UNIPROT Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease). 7581409

1995
dbSNP: rs935071754
rs935071754
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.010 GeneticVariation BEFREE We have identified an unreported missense mutation p.D288G (c.863A > G) in one patient, the most frequently c.120 + 1G > A (IVS1 + 1G > A) mutation in eleven MPS IVA patients and three previously reported mutations p.G66R, p.A85T and p.R386C on the other MPS IVA patients. 27317439

2016
dbSNP: rs771531650
rs771531650
GALNS ; TRAPPC2L ; LOC107983950
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.010 GeneticVariation BEFREE We have identified an unreported missense mutation p.D288G (c.863A > G) in one patient, the most frequently c.120 + 1G > A (IVS1 + 1G > A) mutation in eleven MPS IVA patients and three previously reported mutations p.G66R, p.A85T and p.R386C on the other MPS IVA patients. 27317439

2016