C7, complement C7, 730

N. diseases: 16; N. variants: 11
Disease: C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL ×
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: rs121964920
rs121964920 		0.925 0.080 5 40959520 missense variant C/A;T snv 2.3E-03; 1.6E-05
CUI: C4017564
Disease: C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL 		0.700 0