rs1800549, ABCA4

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular Degeneration, Age-Related, 2
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
0.700 GeneticVariation UNIPROT
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.010 GeneticVariation BEFREE Sequencing of the PCR products revealed a heterozygous T1428M mutation which has been previously reported as one of the AMD associated mutations. 10216065 1999