Table 2. Non-synonymous variants found in 1,473 individuals of the SAPHIR study.
| # | Variation | n (Aa/aa) | MAF [%] | dbSNP Accession | |
| Rare variants | |||||
| 1 | p.R79Q | c.236G>A | 3/0 | 0.10 | ss262967480 |
| 2 | p.R113H | c.338G>A | 1/0 | 0.03 | ss262967482 |
| 3 | p.H131R | c.392A>G | 1/0 | 0.03 | ss262967486 |
| 4 | p.L219F | c.655C>T | 1/0 | 0.03 | ss262967495 |
| 5 | p.D244fs a | c.732delT | 1/0 | 0.03 | ss262967539 |
| 6 | p.N252K | c.756C>G | 26/0 | 0.88 | ss262967509 |
| 7 | p.P260A | c.778C>G | 1/0 | 0.03 | ss262967513 |
| 8 | p.V402I | c.1204G>A | 1/0 | 0.03 | ss262967521 |
| 9 | p.N426S | c.1277A>G | 1/0 | 0.03 | ss262967523 |
| 10 | p.E437K | c.1309G>A | 1/0 | 0.03 | ss262967525 |
| 11 | p.P477R | c.1430C>G | 2/0 | 0.07 | ss262967527 |
| Polymorphisms | |||||
| 12 | p.P265S | c.793C>T | 79/0 | 2.28 b | rs56152088 |
| 13 | p.P481Lc | c.1442C>T | 702/136 | 28.78 b | rs1138693 |
a Results in a premature stop at amino acid 254.
b SNP was genotyped in the complete SAPHIR population (n = 1726).
c This SNP is defined in dbSNP as leucine to proline substitution, however, the proline allele is significantly more common. Therefore the SNP is given here as proline to leucine substitution.