rs768435443, 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
0.010 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848 2019