Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0730292
Disease: Macular dystrophy
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
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0730292
Disease: Macular dystrophy
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