rs1800553, ABCA4

N. diseases: 17
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
0.720 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
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.720 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.720 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811 2007
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
0.720 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997