Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906831
rs387906831
Entrez Id: 1650
Gene Symbol: DDOST
DDOST
CUI: C3281084
Disease:
Congenital disorder of glycosylation type 1r 		0.800 GeneticVariation UNIPROT DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 22305527 2012
dbSNP: rs387906831
rs387906831
Entrez Id: 1650
Gene Symbol: DDOST
DDOST
CUI: C3281084
Disease:
Congenital disorder of glycosylation type 1r 		T 0.800 CausalMutation CLINVAR
dbSNP: rs587776874
rs587776874
Entrez Id: 1650;100861548
Gene Symbol: DDOST;PINK1-AS
DDOST;PINK1-AS
CUI: C3281084
Disease:
Congenital disorder of glycosylation type 1r 		G 0.700 CausalMutation CLINVAR
dbSNP: rs867045420
rs867045420
Entrez Id: 1650
Gene Symbol: DDOST
DDOST
CUI: C3281084
Disease:
Congenital disorder of glycosylation type 1r 		G 0.700 GeneticVariation CLINVAR