C1QB, complement C1q B chain, 713

N. diseases: 24; N. variants: 8
Disease: C1q DEFICIENCY ×
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: rs1361922961
rs1361922961 		1.000 1 22659644 splice donor variant G/C;T snv
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.700 0
dbSNP: rs34813378
rs34813378 		1.000 1 22661354 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.700 0