Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769648248
rs769648248
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 GeneticVariation CLINVAR Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency. 22801829

2012
dbSNP: rs769648248
rs769648248
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 GeneticVariation CLINVAR A new insight into PMM2 mutations in the French population. 15844218

2005
dbSNP: rs769648248
rs769648248
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 GeneticVariation CLINVAR High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 11156536

2001
dbSNP: rs769648248
rs769648248
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		T 0.800 GeneticVariation CLINVAR Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 11058895

2000