rs28936700
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
0.010
GeneticVariation
BEFREE
Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
21596299
2011
rs1221648356
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
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
rs745378110
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
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
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
28448622
2017
rs72549380
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
28448622
2017
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
27820421
2016
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
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
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
27272408
2016
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
27272408
2016
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
27820421
2016
rs771076928
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
G
0.700
CausalMutation
CLINVAR
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
27777502
2016
rs771076928
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
G
0.700
CausalMutation
CLINVAR
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
27820421
2016
rs771076928
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
G
0.700
CausalMutation
CLINVAR
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
27272408
2016
rs587778875
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
CG
0.700
CausalMutation
CLINVAR
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
25950505
2015
rs587778875
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
CG
0.700
CausalMutation
CLINVAR
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
25091052
2015
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].
25109919
2014
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24281366
2014
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
24281366
2014
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
23218183
2013
rs55989760
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
23218701
2013
rs587778873
×
Entrez Id:
1545
Gene Symbol:
CYP1B1
CYP1B1
Glaucoma of childhood
TGGTGGCATGA
0.700
CausalMutation
CLINVAR
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
23922489
2013
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
23218701
2013
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
23922489
2013
rs771076928
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
G
0.700
CausalMutation
CLINVAR
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
23922489
2013
rs72549387
CYP1B1;CYP1B1-AS1
Glaucoma of childhood
T
0.700
CausalMutation
CLINVAR
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
22004014
2012