TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: Combined immunodeficiency ×
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: rs863225436
rs863225436 		0.925 0.120 3 196075339 missense variant A/G snv
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0