rs61750172, GUCY2D

N. diseases: 8
Disease: Disorder of eye ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Disorder of eye
CUI: C0015397
Disease: Disorder of eye
0.010 GeneticVariation BEFREE Mutation analysis of the guanylate cyclase 2D gene (GUCY2D, MIM 600179, previously called RETGC1), located at 17p12-p13, showed a missense mutation (R838C) in exon 13, that co-segregated with the eye disease in the family. 11135490 2000