PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Thyroid Dysgenesis ×
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: rs201093713
rs201093713 		0.925 0.120 2 113241628 missense variant C/G;T snv 2.4E-04
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2018 2018