rs1800553, ABCA4

N. diseases: 17
Disease: Muscular Dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.010 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