rs869320705, RPS6KA3

N. diseases: 2
Disease: Coffin-Lowry syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coffin-Lowry syndrome
CUI: C0265252
Disease: Coffin-Lowry syndrome
0.710 GeneticVariation BEFREE We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. 15668050 2005
Coffin-Lowry syndrome
CUI: C0265252
Disease: Coffin-Lowry syndrome
0.710 CausalMutation CLINVAR