Source: CLINVAR

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

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

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

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: 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: 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 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 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 Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. 27373559

2016
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 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 Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241

1995
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