TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
Disease: IMMUNODEFICIENCY 46 ×
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: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.800 1.000 1 2016 2016
dbSNP: rs1341988492
rs1341988492 		1.000 3 196065442 splice donor variant C/A snv
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 0