C5, complement C5, 727

N. diseases: 129; N. variants: 20
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: rs373359894
rs373359894
1.000 9 120997684 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C3810402
Disease: ECULIZUMAB, POOR RESPONSE TO
ECULIZUMAB, POOR RESPONSE TO
0.700 0
dbSNP: rs56040400
rs56040400
1.000 9 120997683 missense variant C/T snv 3.3E-04 1.0E-04
CUI: C3810402
Disease: ECULIZUMAB, POOR RESPONSE TO
ECULIZUMAB, POOR RESPONSE TO
0.700 0