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 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: 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 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 Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. 23236987

2013
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 Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). 11061528

2000
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: 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