{{Rsnum
|rsid=11258194
|Gene=OPTN
|Chromosome=10
|position=13110400
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=A
|GMAF=0.06795
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=OPTN
}}{{omim
|desc=GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
|id=602432
|rsnum=11258194
|variant=0004
}}{{ClinVar
|rsid=11258194
|Reversed=0
|FwdREF=T
|FwdALT=A
|REF=T
|ALT=A
|RSPOS=13152400
|CHROM=10
|GMAF=0.0678
|dbSNPBuildID=120
|SSR=0
|SAO=1
|VP=0x050160000000150516110100
|GENEINFO=OPTN:10133
|GENE_NAME=OPTN
|GENE_ID=10133
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.13152400T>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=602432.0004
|CLNSIG=255
|CLNCUI=C1847730
|CLNDBN=Glaucoma, normal tension, susceptibility to; Glaucoma 1, open angle, e
|Disease=Glaucoma; Glaucoma 1
|CLNACC=RCV000007516.1; RCV000007517.1
|Tags=PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.932; 0.06795
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=C1847730:606657; C1842026
|COMMON=1
}}{{GET Evidence
|gene=OPTN
|aa_change=Met98Lys
|aa_change_short=M98K
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs11258194
|overall_frequency_n=660
|overall_frequency_d=10758
|overall_frequency=0.0613497
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.031
|genetests_testable=Y
|nblosum100=4
|max_or_disease_name=Primary Open Angle Glaucoma (Adult Onset)
|max_or_case_pos=76
|max_or_case_neg=562
|max_or_control_pos=64
|max_or_control_neg=537
|max_or_or=1.135
|autoscore=3
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=0
|summary_short=This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.
}}