Table 2.
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.