Table 1.
Identified genetic variants in CFHR5
| Position | Location | Nucleotide | Amino Acid | dbSNP (Build142) | MAF | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Enrolled Individuals | 1000 Genomes Phase 3 | ExAC Data Version 0.3 | ||||||||
| IgAN, n=500 | HC, n=576 | Total | CHB | Total | East Asian | |||||
| Chr1:196946445 | Promoter | c.-350G>T | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196946448 | Promoter | c.-347G>A | — | rs9427942 | 0.000 (0/1000) | 0.0009 (1/1152) | 0.177 (886/5008) | 0.000 (0/206) | 0.000 | 0.000 |
| Chr1:196946869 | Intron 1 | c.58+17T>A | — | rs3748557 | 0.140 (140/1000) | 0.141 (163/1152) | 0.158 (790/5008) | 0.209 (43/206) | 0.208 (25,245/121,354) | 0.17 (1467/8644) |
| Chr1:196946881 | Intron 1 | c.58+29A>C | — | — | 0.000 (0/1000) | 0.0009 (1/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196951903 | Intron 1 | c.59–112G>A | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196953025 | Intron 2 | c.254–66A>T | — | rs570596954 | 0.002 (2/1000) | 0.000 (0/1152) | 0.0006 (3/5008) | 0.000 (0/206) | 0.000 | 0.000 |
| Chr1:196953169 | Exon 3 | c.332A>C | p.Gln111Pro | — | 0.001 (1/1000) | 0.0009 (1/1152) | 0.000 | 0.000 | <0.0001 (1/121,218) | 0.0001 (1/8646) |
| Chr1:196953379 | Intron 3 | c.430+112T>C | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196963130 | Intron 3 | c.431–80G>A | — | rs117310366 | 0.013 (13/1000) | 0.013 (15/1152) | 0.004 (18/5008) | 0.029 (6/206) | 0.000 | 0.000 |
| Chr1:196963213 | Exon 4 | c.434G>A | p.Gly145Glu | rs57960694 | 0.013 (13/1000) | 0.013 (15/1152) | 0.041 (204/5008) | 0.029 (6/206) | 0.013 (1496/119,312) | 0.016 (139/8546) |
| Chr1:196963287 | Exon 4 | c.508G>A | p.Val170Met | rs201073457 | 0.007 (7/1000) | 0.004 (5/1152) | 0.001 (6/5008) | 0.010 (2/206) | 0.0006 (77/120,992) | 0.008 (70/8644) |
| Chr1:196963312 | Exon 4 | c.533A>G | p.Asn178Ser | rs200427185 | 0.006 (6/1000) | 0.000 (0/1152) | 0.008 (4/5008) | 0.005 (1/206) | 0.0003 (37/121,072) | 0.004 (37/8646) |
| Chr1:196965015 | Exon 5 | c.776T>A | p.Leu259Termination | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196965031 | Intron 5 | c.790+2T>C | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | <0.0001 (1/120,052) | 0 (0/8581) |
| Chr1:196965076 | Intron 5 | c.790+47A>G | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196965183 | Exon 6 | c.822A>T | p.Glu274Asp | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196967458 | Intron 7 | c.1147+24T>G | — | rs1332664 | 0.332 (332/1000) | 0.316 (364/1152) | 0.694 (3475/5008) | 0.374 (77/206) | 0.752 (87,237/116,050) | 0.302 (2560/8467) |
| Chr1:196967528 | Intron 7 | c.1147+94G>T | — | rs116891819 | 0.013 (13/1000) | 0.008 (9/1152) | 0.004 (18/5008) | 0.029 (6/206) | 0.000 | 0.000 |
| Chr1:196971491 | Intron 7 | c.1148–121G>A | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196971504 | Intron 7 | c.1148–108A>G | — | rs147231103 | 0.000 (0/1000) | 0.009 (10/1152) | 0.004 (18/5008) | 0.029 (6/206) | 0.000 | 0.000 |
| Chr1:196971544 | Intron 7 | c.1148–68C>T | — | rs181464041 | 0.000 (0/1000) | 0.0009 (1/1152) | 0.010 (50/5008) | 0.000 (0/206) | 0.000 | 0.000 |
| Chr1:196971637 | Exon 8 | c.1173G>A | p.Pro391Pro | rs200148491 | 0.000 (0/1000) | 0.0009 (1/1152) | 0.0002 (1/5008) | 0.000 (0/206) | <0.0001 (5/120,578) | 0.0002 (2/8624) |
| Chr1:196971814 | Intron 8 | c.1330+20G>A | — | — | 0.000 (0/1000) | 0.0009 (1/1152) | 0.000 | 0.000 | <0.0001 (1/111,288) | 0.000 (0/7946) |
| Chr1:196971834 | Intron 8 | c.1330+40G>A | — | rs116937944 | 0.000 (0/1000) | 0.0009 (1/1152) | 0.0002 (1/5008) | 0.005 (1/206) | <0.0001 (2/104,778) | 0.000 (0/7380) |
| Chr1:196971872 | Intron 8 | c.1330+78A>G | — | — | 0.001 (1/1000) | 0.003 (3/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196973817 | Exon 9 | c.1357C>T | p.Pro453Ser | rs184883943 | 0.000 (0/1000) | 0.005 (6/1152) | 0.0002 (1/5008) | 0.005 (1/206) | 0.0001 (13/121,390) | 0.002 (13/8654) |
| Chr1:196974101 | Intron 9 | c.1513+126A>G | — | — | 0.003 (3/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
| Chr1:196974110 | Intron 9 | c.1513+137G>A | — | rs142743076 | 0.000 (0/1000) | 0.0009 (1/1152) | 0.0002 (1/5008) | 0.000 (0/206) | 0.000 | 0.000 |
| Chr1:196977744 | Exon 10 | c.1641G>A | p.Ala547Ala | rs74323799 | 0.001 (1/1000) | 0.000 (0/1152) | 0.001 (3/5008) | 0.000 (0/206) | 0.0002 (29/121,322) | 0.003 (25/8640) |
| Chr1:196977811 | Exon 10 (stop codon) | c.1708T>C | p.Termination570Arg | — | 0.001 (1/1000) | 0.003 (3/1152) | 0.000 | 0.000 | <0.0001 (5/121,104) | 0.0005 (5/8634) |
| Chr1:196977816 | 3′ UTR | c.1710*3C>G | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | <0.0001 (9/120,944) | 0.000 (0/8626) |
| Chr1:196977981 | 3′ UTR | c.1710*168G>T | — | — | 0.001 (1/1000) | 0.000 (0/1152) | 0.000 | 0.000 | 0.000 | 0.000 |
dbSNP, single nucleotide polymorphism database; ExAC, exome aggregation consortium; HC, healthy controls; CHB, Chinese Han Beijing; —, inapplicable.