Table 1.
Variants found in the C1QA and C1QC genes
| Genes | dbSNP ID | Location NM_000371.3 (HGVS) | Region | Effect on protein (Polyphen‐2) | Frequency of common allele* | Frequency of mutant allele* |
|---|---|---|---|---|---|---|
| C1QA | rs201693493 | c.125 G>A; p.Arg42Gln | Exon 2 | Missense (Benign) | G (1.000) | A (0.000) |
| rs369926227 | c.163 + 35C>A | Intron 2 | N.A. | C (0.999) | A (0.001) | |
| rs172378** | c.276A>G | Exon 2 | Synonymous | A (0.601) | G (0.399) | |
| p.Gly92Gly | (Benign) | |||||
| rs180679721 | c.295A>C | Exon 3 | Missense | A (1.000) | C (0.000) | |
| p.Ile99Leu | (Benign) | |||||
| rs149050968 | c.525 C>T p.Ile175Ile | Exon 3 | Synonymous | C (1.000) | T (0.000) | |
| rs765715625 | c.609G>C | Exon 3 | Synonymous | G (1.000) | C (0.000) | |
| p.Gly203Gly | (Benign) | |||||
| C1QC | rs2935537 | c.‐3G<A | 5′UTR | N.A. | G (1.000) | A (0.000) |
| rs74909167 | c.‐13‐72G>A | Intron 1 | N.A. | G (0.995) | A (0.005) | |
| rs15940** | c.126C>T | Exon 2 | Synonymous | C (0.732) | T (0.268) | |
| p.Pro126Pro | (Benign) | |||||
| rs36049190 | c.182‐21C>G | Intron 2 | N.A. | C (0.914) | G (0.086) | |
| rs200952686 | c.*5G>A | 3′UTR | N.A. | G (1.000) | A (0.000) | |
| rs201241346 | c.*14G>A | 3′UTR | N.A. | G (1.000) | A (0.000) | |
| rs9434** | c.*21C>A | 3′ UTR | N.A. | C (0.601) | A (0.399) |
NA, non applicable.
*Frequency in HapMap Northern Europeans from Utah.
**Variants studied by Dardiotis et al. (2009)17.