CR2, complement C3d receptor 2, 1380

N. diseases: 123; N. variants: 9
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 ×
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: rs398122863
rs398122863 		1.000 1 207474297 stop gained G/A;C snv
CUI: C3542922
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7
IMMUNODEFICIENCY, COMMON VARIABLE, 7 		0.700 0
dbSNP: rs398122864
rs398122864 		1.000 1 207470103 splice donor variant G/C snv
CUI: C3542922
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7
IMMUNODEFICIENCY, COMMON VARIABLE, 7 		0.700 0