Variant & Polymorphism
insertion/deletion
| deletion of CFHR1 with deletion of CFHR3, associated with lower risk of age-related macular degeneration |
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prevalence of factor H autoantibodies was decreased in AMD patients  |
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SNP in CFH-related protein 3 (CFHR3)rs426736 associated with host susceptibility to meningococcal disease  |
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association of factor H autoantibodies with deletions of CFHR3 in atypical hemolytic uremic syndrome  |
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delta-CFHR3/CFHR1 confers a protective effect against AMD development independent of the sequence variants of factor H |
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common deletion of CFHR1 and CFHR3 are being protective against AMD |
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variant in CFHR3 affecting Complement Activation in IgA Nephropathy  |
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polymorphism in CFHR3 (c.721C>T; rs379370) that is associated with increased risk of aHUS  |
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CFHR3 SNP that provides protection from MD (rs75703017), by decreasing the concentration of CFH in the blood  |
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