TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: Familial dyshormonogenetic goiter ×
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: rs732609
rs732609 		0.827 0.160 2 1496155 missense variant A/C;G snv 0.43
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs758368355
rs758368355 		1.000 0.120 2 1477452 missense variant C/A;T snv 8.3E-06
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015