Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338704
rs80338704
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. 18571450

2008
dbSNP: rs80338704
rs80338704
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. 16540464

2006
dbSNP: rs80338704
rs80338704
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. 10386614

1999
dbSNP: rs80338704
rs80338704
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 GeneticVariation CLINVAR Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. 9497260

1998
dbSNP: rs80338704
rs80338704
PMM2
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		G 0.800 CausalMutation CLINVAR