TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908083
rs121908083
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908084
rs121908084
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908086
rs121908086
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908087
rs121908087
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0036857
Disease:
Severe intellectual disability 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1837658
Disease:
Gross motor development delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease:
Congenital Hypothyroidism 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0349588
Disease:
Short stature 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518950
rs1057518950
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0241442
Disease:
Protrusion of tongue 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1169072188
rs1169072188
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs1173922703
rs1173922703
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs121908082
rs121908082
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1558307375
rs1558307375
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs201165648
rs201165648
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs760307139
rs760307139
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs779434941
rs779434941
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs935058009
rs935058009
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.700 GeneticVariation UNIPROT
dbSNP: rs763941231
rs763941231
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
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: rs104893669
rs104893669
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241 1995
dbSNP: rs121908083
rs121908083
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241 1995
dbSNP: rs121908084
rs121908084
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
Deficiency of iodide peroxidase (disorder) 		0.800 GeneticVariation UNIPROT Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. 7550241 1995
dbSNP: rs121908085
rs121908085
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C1291299
Disease:
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