rs61752068, CDKL5;RS1

N. diseases: 2
Disease: Retinoschisis, Juvenile, X-Linked ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinoschisis, Juvenile, X-Linked
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
0.010 GeneticVariation BEFREE Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations. 17615541 2007