TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: Deficiency of iodide peroxidase (disorder) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs778515113
rs778515113 		1.000 0.120 2 1484734 missense variant G/A;T snv 5.6E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 17 1995 2016
dbSNP: rs763941231
rs763941231 		1.000 0.120 2 1477447 frameshift variant -/GCCG delins 4.9E-04 6.0E-04
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 1992 2016