Table 1.

Identified genetic variants in CFHR5

PositionLocationNucleotideAmino AciddbSNP (Build142)MAF
Enrolled Individuals1000 Genomes Phase 3ExAC Data Version 0.3
IgAN, n=500HC, n=576TotalCHBTotalEast Asian
Chr1:196946445Promoterc.-350G>T0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196946448Promoterc.-347G>Ars94279420.000 (0/1000)0.0009 (1/1152)0.177 (886/5008)0.000 (0/206)0.0000.000
Chr1:196946869Intron 1c.58+17T>Ars37485570.140 (140/1000)0.141 (163/1152)0.158 (790/5008)0.209 (43/206)0.208 (25,245/121,354)0.17 (1467/8644)
Chr1:196946881Intron 1c.58+29A>C0.000 (0/1000)0.0009 (1/1152)0.0000.0000.0000.000
Chr1:196951903Intron 1c.59–112G>A0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196953025Intron 2c.254–66A>Trs5705969540.002 (2/1000)0.000 (0/1152)0.0006 (3/5008)0.000 (0/206)0.0000.000
Chr1:196953169Exon 3c.332A>Cp.Gln111Pro0.001 (1/1000)0.0009 (1/1152)0.0000.000<0.0001 (1/121,218)0.0001 (1/8646)
Chr1:196953379Intron 3c.430+112T>C0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196963130Intron 3c.431–80G>Ars1173103660.013 (13/1000)0.013 (15/1152)0.004 (18/5008)0.029 (6/206)0.0000.000
Chr1:196963213Exon 4c.434G>Ap.Gly145Glurs579606940.013 (13/1000)0.013 (15/1152)0.041 (204/5008)0.029 (6/206)0.013 (1496/119,312)0.016 (139/8546)
Chr1:196963287Exon 4c.508G>Ap.Val170Metrs2010734570.007 (7/1000)0.004 (5/1152)0.001 (6/5008)0.010 (2/206)0.0006 (77/120,992)0.008 (70/8644)
Chr1:196963312Exon 4c.533A>Gp.Asn178Serrs2004271850.006 (6/1000)0.000 (0/1152)0.008 (4/5008)0.005 (1/206)0.0003 (37/121,072)0.004 (37/8646)
Chr1:196965015Exon 5c.776T>Ap.Leu259Termination0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196965031Intron 5c.790+2T>C0.001 (1/1000)0.000 (0/1152)0.0000.000<0.0001 (1/120,052)0 (0/8581)
Chr1:196965076Intron 5c.790+47A>G0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196965183Exon 6c.822A>Tp.Glu274Asp0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196967458Intron 7c.1147+24T>Grs13326640.332 (332/1000)0.316 (364/1152)0.694 (3475/5008)0.374 (77/206)0.752 (87,237/116,050)0.302 (2560/8467)
Chr1:196967528Intron 7c.1147+94G>Trs1168918190.013 (13/1000)0.008 (9/1152)0.004 (18/5008)0.029 (6/206)0.0000.000
Chr1:196971491Intron 7c.1148–121G>A0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196971504Intron 7c.1148–108A>Grs1472311030.000 (0/1000)0.009 (10/1152)0.004 (18/5008)0.029 (6/206)0.0000.000
Chr1:196971544Intron 7c.1148–68C>Trs1814640410.000 (0/1000)0.0009 (1/1152)0.010 (50/5008)0.000 (0/206)0.0000.000
Chr1:196971637Exon 8c.1173G>Ap.Pro391Prors2001484910.000 (0/1000)0.0009 (1/1152)0.0002 (1/5008)0.000 (0/206)<0.0001 (5/120,578)0.0002 (2/8624)
Chr1:196971814Intron 8c.1330+20G>A0.000 (0/1000)0.0009 (1/1152)0.0000.000<0.0001 (1/111,288)0.000 (0/7946)
Chr1:196971834Intron 8c.1330+40G>Ars1169379440.000 (0/1000)0.0009 (1/1152)0.0002 (1/5008)0.005 (1/206)<0.0001 (2/104,778)0.000 (0/7380)
Chr1:196971872Intron 8c.1330+78A>G0.001 (1/1000)0.003 (3/1152)0.0000.0000.0000.000
Chr1:196973817Exon 9c.1357C>Tp.Pro453Serrs1848839430.000 (0/1000)0.005 (6/1152)0.0002 (1/5008)0.005 (1/206)0.0001 (13/121,390)0.002 (13/8654)
Chr1:196974101Intron 9c.1513+126A>G0.003 (3/1000)0.000 (0/1152)0.0000.0000.0000.000
Chr1:196974110Intron 9c.1513+137G>Ars1427430760.000 (0/1000)0.0009 (1/1152)0.0002 (1/5008)0.000 (0/206)0.0000.000
Chr1:196977744Exon 10c.1641G>Ap.Ala547Alars743237990.001 (1/1000)0.000 (0/1152)0.001 (3/5008)0.000 (0/206)0.0002 (29/121,322)0.003 (25/8640)
Chr1:196977811Exon 10 (stop codon)c.1708T>Cp.Termination570Arg0.001 (1/1000)0.003 (3/1152)0.0000.000<0.0001 (5/121,104)0.0005 (5/8634)
Chr1:1969778163′ UTRc.1710*3C>G0.001 (1/1000)0.000 (0/1152)0.0000.000<0.0001 (9/120,944)0.000 (0/8626)
Chr1:1969779813′ UTRc.1710*168G>T0.001 (1/1000)0.000 (0/1152)0.0000.0000.0000.000
  • dbSNP, single nucleotide polymorphism database; ExAC, exome aggregation consortium; HC, healthy controls; CHB, Chinese Han Beijing; —, inapplicable.