rs732609, TPO

N. diseases: 5
Disease: Familial dyshormonogenetic goiter ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial dyshormonogenetic goiter
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
0.010 GeneticVariation BEFREE In conclusion, the substitutions mutations, namely, p.Ala373Ser, p.Ser398Thr, and p.Thr725Pro, had been involved in Bangladeshi patients with TDH and molecular docking-based study revealed that these mutations had damaging effect on the TPO protein activity. 30915365 2019