rs121964920, C7

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Complement Component 7 Deficiency
CUI: C1864694
Disease: Complement Component 7 Deficiency
8 0.925 0.080 5 40959520 missense variant C/A;T snv 2.3E-03; 1.6E-05 0.800 1.000 3 1996 1998
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
CUI: C4017564
Disease: C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
1 0.925 0.080 5 40959520 missense variant C/A;T snv 2.3E-03; 1.6E-05 0.700 0