DIO2, iodothyronine deiodinase 2, 1734

N. diseases: 79; N. variants: 10
Disease: Dystrophia myotonica 2 ×
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: rs225014
rs225014 		0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010