rs398122854, ARX

N. diseases: 3
Disease: X-linked infantile spasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.010 GeneticVariation BEFREE Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). 19738637 2010