rs1800728, ABCA4

N. diseases: 8
Disease: Macular dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.700 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005