Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777678299
rs777678299
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A
T 0.700 GeneticVariation CLINVAR Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases. 27243976 2016
dbSNP: rs777678299
rs777678299
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A
T 0.700 GeneticVariation CLINVAR Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. 21850185 2011