rs1061170, CFH

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE CFH Y402H is associated with disease progression, with soft drusen and hyperpigmentation as high-risk features. 29453225 2018
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE Also in the Chinese population, soft drusen as part of age-related maculopathy are associated with the Y402H polymorphism in the complement factor H gene despite a markedly lower frequency of C allele in the Chinese population than in white populations. 20038862 2010
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE After adjusting for age and other covariants, the CFH CC (Y402H polymorphism) genotype was associated with an increased likelihood of bilateral compared with unilateral involvement by any soft drusen (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.4-4.5), distinct soft drusen (OR, 2.8; 95% CI, 1.0-8.1), and pigmentary abnormalities (OR, 1.7; 95% CI, 1.0-2.8). 19822851 2009
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE Furthermore, we show that the Y402H variant confers similar risk of soft drusen and both forms of advanced AMD (GA or neovascular AMD). 16300415 2006