rs800292, CFH

N. diseases: 33
Disease: Membranoproliferative Glomerulonephritis, Type II ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Membranoproliferative Glomerulonephritis, Type II
CUI: C0268743
Disease: Membranoproliferative Glomerulonephritis, Type II
0.020 GeneticVariation BEFREE Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-terminal complement control protein module that also carries the I62V variation linked to dense-deposit disease and age-related macular degeneration. 21270465 2011
Membranoproliferative Glomerulonephritis, Type II
CUI: C0268743
Disease: Membranoproliferative Glomerulonephritis, Type II
0.020 GeneticVariation BEFREE Substitution of buried Val-62 with Ile (a factor H single nucleotide polymorphism potentially protective for age-related macular degeneration and dense deposit disease) causes rearrangements within the module 1 core and increases thermal stability but does not disturb the interface with module 2. 18252712 2008