{{Rsnum
|rsid = 28936414
|Gene = CYP1B1
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=2
|position=38071251
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=79204362
|Gene_s=CYP1B1
}}{{omim
| id = 601771
| variant = 0012
| desc    = GLAUCOMA, EARLY-ONSET, DIGENIC
| rsnum   = 28936414
}}
{{ neighbor
| rsid = 28936413
| distance = 17
}}{{PMID Auto
|PMID=20057908
|Title=Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
|OA=1
}}{{GET Evidence
|gene=CYP1B1
|aa_change=Arg368His
|aa_change_short=R368H
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs28936414
|overall_frequency_n=16
|overall_frequency_d=10694
|overall_frequency=0.00149617
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_familial=2
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualityscore_treatability=4
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.999
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|max_or_disease_name=Primary Congenital Glaucoma
|max_or_case_pos=37
|max_or_case_neg=302
|max_or_control_pos=2
|max_or_control_neg=238
|max_or_or=14.579
|autoscore=6
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=0
|summary_short=This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene.
}}