rs380390, CFH

N. diseases: 2
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
0.810 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation GWASDB Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation BEFREE ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD. 16754848 2006
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation GWASDB Complement factor H polymorphism in age-related macular degeneration. 15761122 2005
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.810 GeneticVariation GWASCAT Complement factor H polymorphism in age-related macular degeneration. 15761122 2005
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.010 GeneticVariation BEFREE ERCC6 C-6530>G was associated with AMD susceptibility, both independently and through interaction with an SNP (rs380390) in the complement factor H (CFH) intron reported to be highly associated with AMD. 16754848 2006