rs79204362, CYP1B1

N. diseases: 10
Disease: Hydrophthalmos ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hydrophthalmos
CUI: C0020302
Disease: Hydrophthalmos
0.010 GeneticVariation BEFREE We conclude from the very low penetrance and genetic epidemiological analyses that c.1103G>A (p.R368H) is unlikely to be a disease-causing recessive mutation in congenital glaucoma as previously reported. 29556725 2019