rs104894927, RP2

N. diseases: 4
Disease: X-linked retinitis pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked retinitis pigmentosa
CUI: C0339528
Disease: X-linked retinitis pigmentosa
0.010 GeneticVariation BEFREE Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 11262649 2001