Variant: rs104893622 

    present in Gene: CYP1B1
    present in Chromosome: 2
    Position on Chromosome: 38071234
    Alleles of this Variant: C/T

rs104893622 in CYP1B1 gene and GLAUCOMA 3, PRIMARY CONGENITAL, A PMID 11774072 2002 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

PMID 10227395 1999 Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

PMID 11980847 2002 Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.

PMID 11184479 2000 Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

PMID 16735994 2006 Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.

PMID 15255109 2004 Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

PMID 10655546 2000 Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

PMID 15342693 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

PMID 9463332 1998 Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

PMID 16688110 2006 Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

PMID 18470941 2008 Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

PMID 9497261 1998 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.

PMID 14635112 2003 Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.

PMID 12525557 2003 CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.

PMID 16490498 2006 Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.

PMID 16862072 2006 Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.

PMID 14640114 2003 Gene symbol: CYP1B1. Disease: glaucoma, primary congenital.

PMID 15475877 2004 Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients.

PMID 11527932 2001 Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.

PMID 12036985 2002 Molecular genetics of primary congenital glaucoma in Brazil.