Tag

Eye Health

30 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	Eye Health	Strong
rs10490924	ARMS2 A69S	Second strongest genetic risk factor for age-related macular degeneration, af...	Skin & Eyes	Eye Health	Established
rs1061170	CFH Y402H	Strongly increases risk of age-related macular degeneration through impaired ...	Skin & Eyes	Eye Health	Established
rs11057841	SCARB1	Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-med...	Cholesterol & Lipoproteins	Eye Health	Moderate
rs10889677	IL23R	3' UTR and intronic IL23R variant disrupting Let-7e/Let-7f miRNA binding — th...	IBD & Mucosal Immunity	Eye Health	Strong
rs1279683	SLC23A2	Intronic variant in the SVCT2 vitamin C transporter — G allele associated wit...	Vitamins & Nutrient Absorption	Eye Health	Moderate
rs2075674	TFR2 TFR2 Ala617 variant	Synonymous coding variant in transferrin receptor 2 with potential splice-mod...	Iron & Mineral Transport	Eye Health	Emerging
rs2230199	C3 R102G	Missense variant in complement C3 increasing risk of age-related macular dege...	Skin & Eyes	Eye Health	Established
rs33912345	SIX6 Asn141His	Affects optic nerve development and retinal ganglion cell survival, strongly ...	Skin & Eyes	Eye Health	Strong
rs4151667	CFB L9H	Missense variant in the signal peptide of complement factor B forming the H10...	B-Cell Immunity & Antibody-Mediated Disease	Eye Health	Strong
rs4236601	CAV1	Intergenic variant near caveolin genes affecting primary open-angle glaucoma ...	Skin & Eyes	Eye Health	Strong
rs524952	GJD2	Intergenic variant near GJD2 affecting myopia risk and axial eye growth throu...	Skin & Eyes	Eye Health	Strong
rs1831281	CFH	Intronic CFH variant that tags the complement-risk haplotype; the C allele (c...	Vascular Inflammation & Remodeling	Eye Health	Moderate
rs1831282	CFH	Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C all...	Vascular Inflammation & Remodeling	Eye Health	Strong
rs547154	C2 IVS10	Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci...	B-Cell Immunity & Antibody-Mediated Disease	Eye Health	Strong
rs17606561	ELOVL2	3'-UTR variant in ELOVL2 associated with altered EPA-to-DHA conversion; A all...	Triglycerides & Fatty Acids	Eye Health	Moderate
rs641153	CFB R32Q	Protective missense variant in complement factor B that reduces alternative p...	B-Cell Immunity & Antibody-Mediated Disease	Eye Health	Strong
rs2274700	CFH A473A	Synonymous CFH variant in complete LD with rs1410996 that tags the complement...	Longevity & Aging	Eye Health	Strong
rs3825942	LOXL1 G153D (Gly153Asp)	Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allel...	Coronary Artery Disease & Atherosclerosis	Eye Health	Strong
rs28936700	CYP1B1 Gly61Glu (G61E)	Pathogenic missense variant in the cytochrome P450 1B1 enzyme that abolishes ...	Vascular Inflammation & Remodeling	Eye Health	Established
rs28936701	CYP1B1 R469W	Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a...	Vascular Inflammation & Remodeling	Eye Health	Established
rs2672598	HTRA1	Promoter variant at -487 in HTRA1 that elevates HTRA1 serine protease express...	Longevity & Aging	Eye Health	Strong
rs9332739	C2 E318D	Missense variant in complement component C2 forming a protective haplotype wi...	B-Cell Immunity & Antibody-Mediated Disease	Eye Health	Strong
rs4434553	TFR2 TFR2 upstream variant	Regulatory variant 2 kb upstream of TFR2 that modulates hepcidin production a...	Vitamins & Nutrient Absorption	Eye Health	Emerging
rs74315329	MYOC Gln368Ter (Q368X)	Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile a...	Coronary Artery Disease & Atherosclerosis	Eye Health	Established
rs6564851	BCO1	Upstream regulatory variant that reduces BCO1 (BCMO1) catalytic activity by ~...	Vitamins & Nutrient Absorption	Eye Health	Strong
rs551397	CFH	Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks co...	Longevity & Aging	Eye Health	Moderate
rs7501331	BCO1 Ala379Val	Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele,...	Vitamins & Nutrient Absorption	Eye Health	Strong
rs7137828	ATXN2	Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T al...	Longevity & Aging	Eye Health	Strong
rs66800491	PVRL3	Intergenic variant ~1.1 Mb upstream of NECTIN3/PVRL3; the strongest genome-wi...	Neurology & Cognition	Eye Health	Strong