TG, thyroglobulin, 7038

N. diseases: 240; N. variants: 43
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: rs2076738
rs2076738 		0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.030 1.000 3 1998 2004
dbSNP: rs2076739
rs2076739 		0.827 0.200 8 132971804 missense variant T/A snv
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2004
dbSNP: rs370991693
rs370991693 		0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-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 2009 2009
dbSNP: rs898275076
rs898275076 		0.925 0.120 8 133022135 missense variant G/A snv 7.0E-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 2018 2018