Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893669
rs104893669
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		T 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: rs121908084
rs121908084
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR

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

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

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: 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: 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: 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: rs1057518950
rs1057518950
TPO
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908082
rs121908082
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		T 0.700 CausalMutation CLINVAR

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
dbSNP: rs1558307375
rs1558307375
TPO
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		CG 0.700 CausalMutation CLINVAR

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