DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
Disease: Familial thyroid dyshormonogenesis ×
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: rs530719719
rs530719719 		0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 9 2002 2018
dbSNP: rs191759494
rs191759494 		0.882 0.120 15 45108159 missense variant C/G;T snv 4.0E-06; 1.4E-04
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2011 2017