TF, transferrin, 7018

N. diseases: 168; N. variants: 74
Disease: Congenital atransferrinemia ×
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: rs121918679
rs121918679 		1.000 0.080 3 133766376 missense variant G/A;C;T snv 1.2E-05; 8.0E-06; 4.0E-06
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2000 2004
dbSNP: rs121918681
rs121918681 		1.000 0.080 3 133753607 missense variant G/A snv 7.0E-06
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2000 2004
dbSNP: rs773139494
rs773139494 		1.000 0.080 3 133775570 missense variant C/A;T snv 1.2E-05
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2007
dbSNP: rs121918680
rs121918680 		1.000 0.080 3 133759306 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0