{{Rsnum
|rsid=523747
|Gene=OPTN
|Chromosome=10
|position=13166076
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.008724
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 11.1 | 88.9
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=523747
|allele=G
|frequency=1
|uid=1103649866394
|type=homozygous_SNP
|hugo=OPTN
|ensembl gene=ENSG00000123240
|ensembl transcript=ENST00000378748
|sift=TOLERATED
|disease=Defects in OPTN may be a cause of normal pressure glaucoma (NPG) (MIM:606657).
}}

{{GET Evidence
|gene=OPTN
|aa_change=Lys322Glu
|aa_change_short=K322E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs523747
|overall_frequency_n=10662
|overall_frequency_d=10758
|overall_frequency=0.991076
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=111
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=0
|autoscore=2
|n_web_uneval=5
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}