Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749455
rs61749455
ABCA4
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 GeneticVariation BEFREE A homozygous nonsense mutation 2971G>T (G991X) was detected in a patient initially diagnosed with STGD based on funduscopic evidence, including bull's eye depigmentation of the fovea and flecks at the posterior pole extending to the mid-peripheral retina. 15017103

2004