Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763941231
rs763941231
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		ACGGC 0.700 CausalMutation CLINVAR Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. 27373559

2016
dbSNP: rs763941231
rs763941231
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		ACGGC 0.700 CausalMutation CLINVAR A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family. 27617131

2015
dbSNP: rs763941231
rs763941231
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		ACGGC 0.700 CausalMutation CLINVAR Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations. 23512414

2013
dbSNP: rs763941231
rs763941231
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		ACGGC 0.700 CausalMutation CLINVAR High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. 17468186

2007
dbSNP: rs763941231
rs763941231
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		ACGGC 0.700 CausalMutation CLINVAR Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. 1401057

1992