rs140032597, UPF3B

N. diseases: 3
Disease: Autistic Disorder ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.010 GeneticVariation BEFREE We identified one nonsense mutation, c.1081C>T/p.Arg361(*), in a family with nonspecific MR (MRX62) and two amino-acid substitutions in two other, unrelated families with MR and/or autism (c.1136G>A/p.Arg379His and c.1103G>A/p.Arg368Gln). 19238151 2010