Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908088
rs121908088
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR Detection of heterozygous c.1708C>T and c.1978C>G thyroid peroxidase (TPO) mutations in Iraqi patients with toxic and nontoxic goiter. 24482635

2014
dbSNP: rs121908088
rs121908088
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 18029453

2008
dbSNP: rs121908088
rs121908088
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. 15745925

2005
dbSNP: rs121908088
rs121908088
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. 10468986

1999