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 Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. 11916616

2002
dbSNP: rs121908085
rs121908085
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. 10084596

1999
dbSNP: rs763662774
rs763662774
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		C 0.700 CausalMutation CLINVAR Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). 11061528

2000
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: rs763662774
rs763662774
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		C 0.700 CausalMutation CLINVAR Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. 23236987

2013
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: rs763662774
rs763662774
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		C 0.700 CausalMutation CLINVAR One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism. 25241611

2014
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: rs763662774
rs763662774
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		C 0.700 CausalMutation CLINVAR Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. 15745925

2005
dbSNP: rs121908085
rs121908085
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. 9024270

1997
dbSNP: rs121908085
rs121908085
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241

1995
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
dbSNP: rs121908085
rs121908085
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 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 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 Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. 27373559

2016
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: 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: 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
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: rs121908087
rs121908087
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121908086
rs121908086
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121908084
rs121908084
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121908083
rs121908083
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104893669
rs104893669
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		T 0.800 CausalMutation CLINVAR

dbSNP: rs760307139
rs760307139
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.700 CausalMutation CLINVAR