MYOC Chromosome 1
Myocilin
Upload your DNA to see your personal genotypes for variants in MYOC.
What This Gene Does
MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Olfactomedin domain containing
Locus Type
gene with protein product
Location
1q24.3
Ensembl
ENSG00000034971
Associated Conditions (8)
Glaucoma 1
open angle
A
Open-angle glaucoma
GLAUCOMA 1
OPEN ANGLE
DIGENIC
Primary open angle glaucoma
Key Variants
RS1033533679
Likely pathogenic
Glaucoma 1, open angle, A
Health Risk
RS121909194
Likely pathogenic
Glaucoma 1, open angle, A
Health Risk
RS1351328951
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS1447891498
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS1652918497
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS1652924886
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS202176570
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS2102944436
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS2102944438
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS2102944440
Likely pathogenic
Open-angle glaucoma, Glaucoma 1, open angle
Health Risk
RS2102944466
Likely pathogenic
Open-angle glaucoma, Open-angle glaucoma
Health Risk
RS2102944475
Likely pathogenic
Glaucoma 1, open angle, A
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1033533679 | Health Risk | Likely pathogenic | Glaucoma 1, open angle, A |
| RS121909194 | Health Risk | Likely pathogenic | Glaucoma 1, open angle, A |
| RS1351328951 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS1447891498 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS1652918497 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma, Open-angle glaucoma |
| RS1652924886 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS202176570 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944436 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944438 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944440 | Health Risk | Likely pathogenic | Open-angle glaucoma, Glaucoma 1, open angle |
| RS2102944466 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944475 | Health Risk | Likely pathogenic | Glaucoma 1, open angle, A |
| RS2102944566 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944606 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944632 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma, Open-angle glaucoma |
| RS2102944655 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944665 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944853 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944873 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527838026 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527838259 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527838316 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527838437 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527838648 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527839053 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2527840110 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS28936694 | Health Risk | Likely pathogenic | GLAUCOMA 1, OPEN ANGLE, A |
| RS566289099 | Health Risk | Likely pathogenic | Glaucoma 1, open angle, A |
| RS74315331 | Health Risk | Likely pathogenic | Glaucoma 1, open angle, A |
| RS749960559 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS769245094 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS878854408 | Health Risk | Likely pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS121909193 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS1572210748 | Health Risk | Pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS2102944863 | Health Risk | Pathogenic | Open-angle glaucoma, Open-angle glaucoma |
| RS562604064 | Health Risk | Pathogenic | — |
| RS74315328 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315329 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315330 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315332 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315334 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315336 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315338 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |
| RS74315341 | Health Risk | Pathogenic | Glaucoma 1, open angle, A |