rs6677604, CFH

N. diseases: 7
Disease: Age related macular degeneration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.720 GeneticVariation BEFREE Analysis of AMD associated genetic variants included frequent polymorphisms at the complement factor H (CFH, MIM 134370) gene (rs1061170 [p.Y402H], rs800292 [p.I62V]), the complement factor H-related 3 (CFHR3, MIM 605336)/complement factor H-related 1 (CFHR1, MIM 134371) locus (rs6677604; proxy for ΔCFHR3/CFHR1; r(2) = 0.97) as well as the age-related maculopathy susceptibility 2 (ARMS2, MIM 611313) gene (rs10490924 [p.A69S]). 23103884 2013
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.720 GeneticVariation BEFREE The plasma CFH-raising rs6677604 allele and raised plasma CFH concentration were each associated with AMD protection. 23873044 2013
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.720 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013