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. 2020 Jan 9;31(2):365–373. doi: 10.1681/ASN.2019040433

Table 2.

Association statistics comparing PMG with controls for four common variants in complement genes previously described at altered frequency in individuals with aHUS/MPGN

Chr Position Ref Alt rsID Gene HGVSp Case Control gnomAD-NFE OR (95% CI) P Value
1 196654324 A C rs1061147 CFH p.A307A 0.534 0.620 0.617 0.71 (0.56 to 0.89) 3.5×10−3
1 196659237 C T rs1061170 CFH p.H402Y 0.534 0.620 0.616 0.71 (0.56 to 0.89) 3.4×10−3
19 6713262 G A rs1047286 C3 p.P314L 0.284 0.213 0.200 1.47 (1.13 to 1.90) 3.9×10−3
19 6718387 G C rs2230199 C3 p.R102G 0.295 0.218 0.206 1.49 (1.16 to 1.93 2.1×10−3

The two chromosome 19 variants and two chromosome 1 variants are in linkage disequilibrium (r2=0.844 and r2=0.999, respectively). Chr, chromosome; Ref, reference allele; Alt, alternate allele; rsID, dbSNP identifier; HGVSp, HGVS protein sequence change; gnomAD-NFE, allele frequency in non-Finish Europeans in the gnomAD database; Position, reference and alternate alleles are given with reference to Build 37 of the human genome.