PAX8, paired box 8, 7849

N. diseases: 253; N. variants: 24
Disease: Congenital Hypothyroidism ×
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: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1173174494
rs1173174494 		1.000 0.120 2 113244466 missense variant C/G snv 4.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs368201100
rs368201100 		1.000 0.120 2 113218569 synonymous variant T/C snv 2.4E-03 2.9E-03
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs775083174
rs775083174 		1.000 0.120 2 113241654 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007