CYP1B1-AS1, CYP1B1 antisense RNA 1, 285154

N. diseases: 12; N. variants: 43
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: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		T 0.800 CausalMutation CLINVAR Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. 22004014 2012
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		T 0.800 CausalMutation CLINVAR Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. 19643970 2010
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 18470941 2008
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 18470941 2008
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 18470941 2008
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. 16862072 2006
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. 16490498 2006
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Primary role of CYP1B1 in Indian juvenile-onset POAG patients. 16688110 2006
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. 16735994 2006
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. 16490498 2006
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. 16862072 2006
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Primary role of CYP1B1 in Indian juvenile-onset POAG patients. 16688110 2006
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. 16735994 2006
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. 16490498 2006
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. 16862072 2006
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. 16735994 2006
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Primary role of CYP1B1 in Indian juvenile-onset POAG patients. 16688110 2006
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 15255109 2004
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. 15475877 2004
dbSNP: rs104893628
rs104893628
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 15342693 2004
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. 15475877 2004
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. 15255109 2004
dbSNP: rs28936700
rs28936700
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT 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: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. 15475877 2004
dbSNP: rs72549387
rs72549387
Entrez Id: 1545;285154
Gene Symbol: CYP1B1;CYP1B1-AS1
CYP1B1;CYP1B1-AS1
CUI: C1856439
Disease:
GLAUCOMA 3, PRIMARY CONGENITAL, A 		0.800 GeneticVariation UNIPROT CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 15342693 2004