rs61750174, GUCY2D

N. diseases: 3
Disease: Rod-Cone Dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
0.010 GeneticVariation BEFREE A heterozygous, triple mutation -E786D, R787C, T788M- in ROS-GC1 has been connected with autosomal cone-rod dystrophy in a British family. 11027131 2000