Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1031719032
rs1031719032
Entrez Id: 22796
Gene Symbol: COG2
COG2
CUI: C4479353
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
GA 0.700 CausalMutation CLINVAR
dbSNP: rs1085307117
rs1085307117
Entrez Id: 22796
Gene Symbol: COG2
COG2
CUI: C4479353
Disease:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq
0.700 GeneticVariation UNIPROT