Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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