rs368488511, DUOX2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Goiter
CUI: C0018021
Disease: Goiter
0.020 GeneticVariation BEFREE Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. 28222800 2017
Goiter
CUI: C0018021
Disease: Goiter
0.020 GeneticVariation BEFREE To describe the first adult case of large goiter associated with a novel R1110Q mutation in the dual oxidase 2 (DUOX2) gene. 18426362 2008