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.