C1QA, complement C1q A chain, 712

N. diseases: 88; N. variants: 5
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: rs121909581
rs121909581 		0.925 0.080 1 22639291 stop gained C/T snv 3.6E-05
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.700 0
dbSNP: rs34139950
rs34139950 		1.000 1 22639317 stop gained G/A snv
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.700 0