rs62619935, APC

N. diseases: 8
Disease: Congenital hypertrophy of retinal pigment epithelium ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital hypertrophy of retinal pigment epithelium
CUI: C0339555
Disease: Congenital hypertrophy of retinal pigment epithelium
0.010 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094 2000