CD46/CFH susceptibility factors and CFHR1/CFHR3 copy number in the affected persons (III:6, IV:5, and V:4) and the unaffected carriers (III:2, III:7, III:9, and IV:6) of the CFH/CFHR3 hybrid gene
Patient ID . | CD46 −652A > G (rs2796267) . | CD46 −366A > G (rs2796268) . | CD46 c.4070T > C (rs7144) . | CFH −331C > T (rs3753394) . | CFH c.184G > A Val62Ile . | CFH c.1204C > T His402Tyr (rs1061170) . | CFH c.2016A > G Gln672Gln (rs3753396) . | CFH c.2808G > T Glu936Asp (rs1065489) . | CFHR1 copy no. . | CFHR3 copy no. . |
---|---|---|---|---|---|---|---|---|---|---|
III:2 | AG | AA | TT | CT | GG | CT | AG | GT | 2 | 2 |
III:6 | AG | AG | TC | CT | GA | TT | AG | GT | 2 | 2 |
III:7 | AG | AG | TC | CT | GG | CT | AG | GT | 2 | 2 |
III:9 | AA | AA | TT | CT | GA | TT | AG | GT | 2 | 2 |
IV:5 | AG | AA | TT | TT | GG | TT | GG | TT | 2 | 2 |
IV:6 | AG | AA | TT | CT | GG | CT | AG | GT | 2 | 2 |
V:4 | GG | AG | TC | CT | GG | CT | AG | GT | 2 | 2 |
Patient ID . | CD46 −652A > G (rs2796267) . | CD46 −366A > G (rs2796268) . | CD46 c.4070T > C (rs7144) . | CFH −331C > T (rs3753394) . | CFH c.184G > A Val62Ile . | CFH c.1204C > T His402Tyr (rs1061170) . | CFH c.2016A > G Gln672Gln (rs3753396) . | CFH c.2808G > T Glu936Asp (rs1065489) . | CFHR1 copy no. . | CFHR3 copy no. . |
---|---|---|---|---|---|---|---|---|---|---|
III:2 | AG | AA | TT | CT | GG | CT | AG | GT | 2 | 2 |
III:6 | AG | AG | TC | CT | GA | TT | AG | GT | 2 | 2 |
III:7 | AG | AG | TC | CT | GG | CT | AG | GT | 2 | 2 |
III:9 | AA | AA | TT | CT | GA | TT | AG | GT | 2 | 2 |
IV:5 | AG | AA | TT | TT | GG | TT | GG | TT | 2 | 2 |
IV:6 | AG | AA | TT | CT | GG | CT | AG | GT | 2 | 2 |
V:4 | GG | AG | TC | CT | GG | CT | AG | GT | 2 | 2 |