IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
Disease: IMMUNODEFICIENCY 28 ×
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: rs74315444
rs74315444 		1.000 21 33426974 missense variant C/A snv
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.800 1.000 4 2000 2013
dbSNP: rs1196094724
rs1196094724 		1.000 21 33426892 missense variant G/A snv 7.0E-06
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs1243506079
rs1243506079 		1.000 21 33421613 missense variant C/T snv 7.0E-06
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs587776822
rs587776822 		1.000 21 33421549 frameshift variant AG/- delins
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs587776823
rs587776823 		1.000 21 33432275 inframe deletion TAACATCTTTAGAGTCGGGCATTTAAG/- delins
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs398122890
rs398122890 		1.000 21 33421652 inframe insertion -/ACAATG delins
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0