rs267606795(C;C)
From SNPedia
| Raine syndrome |
| Is a | genotype |
| of | rs267606795 |
| Gene | FAM20C |
| Chromosome | 7 |
| Position | 255,869 |
| mentioned | by |
| Magnitude | 9 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 9 | Raine syndrome |
| (C;G) | 3 | unaffected carrier of Raine syndrome allele |
| (G;G) | 0 | common in clinvar |
Unless there has been a data mix-up (which is always possible for C/G SNPs prone to ambiguous flips), this genotype represents a patient with two copies of a defective allele associated with Raine syndrome, also known as osteosclerotic bone dysplasia.
