PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Thyroid Hypoplasia ×
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: rs104893656
rs104893656 		0.851 0.120 2 113246826 missense variant T/G snv
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2001 2001