Tag
Eye Health
23 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10033900 | CFI | Intronic variant in complement factor I associated with age-related macular d... | Longevity & Aging | Strong | |
| rs10490924 | ARMS2 A69S | Second strongest genetic risk factor for age-related macular degeneration, af... | Skin & Eyes | Established | |
| rs1061170 | CFH Y402H | Strongly increases risk of age-related macular degeneration through impaired ... | Skin & Eyes | Established | |
| rs11057841 | SCARB1 | Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-med... | Cholesterol & Lipoproteins | Moderate | |
| rs10889677 | IL23R | 3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th... | IBD & Mucosal Immunity | Strong | |
| rs1279683 | SLC23A2 | Intronic variant in the SVCT2 vitamin C transporter — G allele associated wit... | Vitamins & Nutrient Absorption | Moderate | |
| rs2075674 | TFR2 TFR2 Ala617 variant | Synonymous coding variant in transferrin receptor 2 with potential splice-mod... | Iron & Mineral Transport | Emerging | |
| rs1831281 | CFH | Intronic CFH variant that tags the complement-risk haplotype; the C allele (c... | Vascular Inflammation & Remodeling | Moderate | |
| rs28936700 | CYP1B1 Gly61Glu (G61E) | Pathogenic missense variant in the cytochrome P450 1B1 enzyme that abolishes ... | Vascular Inflammation & Remodeling | Established | |
| rs33912345 | SIX6 Asn141His | Affects optic nerve development and retinal ganglion cell survival, strongly ... | Skin & Eyes | Strong | |
| rs28936701 | CYP1B1 R469W | Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a... | Vascular Inflammation & Remodeling | Established | |
| rs4236601 | CAV1 | Intergenic variant near caveolin genes affecting primary open-angle glaucoma ... | Skin & Eyes | Strong | |
| rs547154 | C2 IVS10 | Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs641153 | CFB R32Q | Protective missense variant in complement factor B that reduces alternative p... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs3825942 | LOXL1 G153D (Gly153Asp) | Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allel... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs2274700 | CFH A473A | Synonymous CFH variant in complete LD with rs1410996 that tags the complement... | Longevity & Aging | Strong | |
| rs4434553 | TFR2 TFR2 upstream variant | Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production a... | Vitamins & Nutrient Absorption | Emerging | |
| rs2672598 | HTRA1 | Promoter variant at -487 in HTRA1 that elevates HTRA1 serine protease express... | Longevity & Aging | Strong | |
| rs74315329 | MYOC Gln368Ter (Q368X) | Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile a... | Coronary Artery Disease & Atherosclerosis | Established | |
| rs6564851 | BCO1 | Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~... | Vitamins & Nutrient Absorption | Strong | |
| rs7501331 | BCO1 Ala379Val | Reduces beta-carotene conversion to vitamin A (retinol) by ~32%, contributing... | Vitamins & Nutrient Absorption | Strong | |
| rs551397 | CFH | Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks co... | Longevity & Aging | Moderate | |
| rs7137828 | ATXN2 | Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T al... | Longevity & Aging | Strong |