Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766425037
rs766425037
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood
C 0.700 CausalMutation CLINVAR Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. 19247456 2009
dbSNP: rs766425037
rs766425037
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood
C 0.700 CausalMutation CLINVAR Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. 17164573 2007