{{Rsnum
|rsid = 28939689
|Gene = OPTN
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Chromosome=10
|position=13136766
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=75654767
|Gene_s=OPTN
}}{{omim
| id = 602432
| variant = 0003
| desc    = GLAUCOMA 1, OPEN ANGLE, E
| rsnum   = 28939689
}}

{{GET Evidence
|gene=OPTN
|aa_change=Arg545Gln
|aa_change_short=R545Q
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs28939689
|overall_frequency_n=3
|overall_frequency_d=10756
|overall_frequency=0.000278914
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=5
|n_articles_annotated=5
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualityscore_familial=0
|qualityscore_severity=0
|qualitycomment_severity=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.003
|genetests_testable=Y
|nblosum100=0
|autoscore=3
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=Originally, the variant was believed to be associated with adult-onset primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) after it was found in three individuals in a 2002 study. An additional study in 2005 observed the variant in 6 POAG patients. Further investigation, however, has found the variant to be a non-disease causing polymorphism.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}