Disease: Glaucoma of childhood ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72549380
rs72549380
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. 28448622 2017
dbSNP: rs72549380
rs72549380
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. 9097971 1997