rs786205678, RARA

N. diseases: 2
Disease: Ectopic kidney ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ectopic kidney
CUI: C0238207
Disease: Ectopic kidney
0.010 GeneticVariation BEFREE We describe a girl with a de novo mutation NM_000964 c.826C > T (p.Arg276Trp) in RARA with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). 31343737 2019