rs121908082, TPO

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of iodide peroxidase (disorder)
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
0.700 CausalMutation CLINVAR
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.010 GeneticVariation BEFREE A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family. 26777044 2015