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: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 19643970 2010
dbSNP: rs587778873
rs587778873
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		TGGTGGCATGA 0.700 CausalMutation CLINVAR CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 19234632 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 Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. 19247456 2009
dbSNP: rs771076928
rs771076928
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		G 0.700 CausalMutation CLINVAR CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. 19234632 2009
dbSNP: rs55989760
rs55989760
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. 18537981 2008
dbSNP: rs55989760
rs55989760
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. 18414103 2008
dbSNP: rs55989760
rs55989760
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by human CYP1B1 genetic variants. 18227148 2008
dbSNP: rs587778873
rs587778873
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		TGGTGGCATGA 0.700 CausalMutation CLINVAR CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 17591938 2007
dbSNP: rs587778875
rs587778875
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		CG 0.700 CausalMutation CLINVAR CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. 17591938 2007
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
dbSNP: rs55989760
rs55989760
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 15342693 2004
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Molecular genetics of primary congenital glaucoma in Brazil. 12036985 2002
dbSNP: rs771076928
rs771076928
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		G 0.700 CausalMutation CLINVAR A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. 12372064 2002
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. 11403040 2001
dbSNP: rs55989760
rs55989760
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. 10227395 1999
dbSNP: rs55989760
rs55989760
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. 9497261 1998
dbSNP: rs587778873
rs587778873
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		TGGTGGCATGA 0.700 CausalMutation CLINVAR Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. 9497261 1998
dbSNP: rs587778875
rs587778875
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		CG 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
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
dbSNP: rs749073455
rs749073455
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR
dbSNP: rs893198212
rs893198212
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		T 0.700 CausalMutation CLINVAR
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C2981140
Disease:
Glaucoma of childhood 		0.010 GeneticVariation BEFREE Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. 21596299 2011
dbSNP: rs1221648356
rs1221648356
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		0.010 GeneticVariation BEFREE The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis. 19668597 2009
dbSNP: rs745378110
rs745378110
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C2981140
Disease:
Glaucoma of childhood 		0.010 GeneticVariation BEFREE The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis. 19668597 2009