Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140124953
rs140124953
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.700 CausalMutation CLINVAR Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. 14751036

2003
dbSNP: rs140124953
rs140124953
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.700 CausalMutation CLINVAR Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. 11916616

2002