From: Hypophosphatasia and the risk of atypical femur fractures: a case–control study
Variant ID | cDNA variant | Protein variant | Variant allele frequency in AFF patients (n = 10) | Variant allele frequency in controls (n = 9) | Variant allele frequency in ESP-EAa |
---|---|---|---|---|---|
rs1780316 | c.330 T > C | p.S110S | 1.00 | 0.94 | 0.95 |
rs3200254 | c.787 T > C | p.Y263H | 0.20 | 0.17 | 0.11 |
rs3200255 | c.876A > G | p.P292P | 0.20 | 0.17 | 0.11 |
rs34605986 | c.1565 T > C | p.V522A | 0.10 | 0.00 | 0.10 |