Gene | SNP number | Amino acid a | cDNA ATG + 1 | Genomic DNA | Domain | Frequency in SLE patients with/without nephritis (%(n)) | Frequency in controls (%(n)) | Disease association/function | References | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Southern Sweden (n= 43)/(n= 121) | Mid Sweden (n= 153)/(n= 205) | Southern Sweden (n= 186) | Mid Sweden (n= 337) | ||||||||
CD46 | Novel | S13F | c.38C > T | Exon 1 | Signal peptide | 0(0)/0(0) | 0.6(1)/1.0(2) | 0(0) | 0(0) | Healthy controls | [16] |
CD46 | Novel | A219V | c.656C > T | Exon 5 | CCP3 | 2.3(1)/0(0) | 0(0)/0(0) | 0(0) | 0(0) | n.d. | |
CD46 | rs35366573 | A353V | c.1058 C > T | Exon 11 | Trans-membrane | 11.6(5)/5.0(6) | 5.2(8)/3.0(10) | 4.8(9) | 6.8(23) | aHUS, HELLP, GN with C3 deposits and MPGN | |
CFH | Novel | N29D | c.85A > G | Exon 2 | CCP1 | 0(0)/0(0) | 0(0)/0(0) | 0(0) | 0.3(1) | n.d. | |
CFH | Novel | Q400K | c.1198C > A | Exon 9 | CCP7 | 0(0)/0.8(1) | 0(0)/0(0) | 0.5(1) | 0(0) | aHUS | [42] |
CFH | Novel | N516K | c.1548T > A | Exon 11 | CCP9 | 2.3(1)/0(0) | 0(0)/0(0) | 0(0) | 0.3(1) | n.d. | |
CFH | Novel | N556S | c.1667A > G | Exon 11 | CCP9 | 0(0)/0.8(1) | 0(0)/0(0) | 0(0) | 0(0) | n.d. | |
CFH | Novel | Q950H | c.2850G > T | Exon 18 | CCP16 | 4.7(2)/1.7(2) | 0(0)/0.5(1) | 1.6(3) | 0.6(2) | aHUS | |
CFH | Novel | F960S | c.2879T > A | Exon 18 | CCP16 | 0(0)/0(0) | 0.7(1)/0(0) | 0(0) | 0(0) | n.d. | |
CFH | rs35274867 | N1050Y | c.3148A > T | Exon 20 | CCP18 | 2.3(1)/2.5(3) | 3.9(6)/2.6(4) | 2.2(4) | 4.7(16) | aHUS, AMD, MPGN2 | |
CFH | rs62625015 | Q1076E | c.3226C > G | Exon 20 | CCP18 | 0(0)/0.8(1) | 0.7(1)/0(0) | 0(0) | 0(0) | aHUS |