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rs267606795(C;C)

From SNPedia
Raine syndrome
Is agenotype
ofrs267606795
GeneFAM20C
Chromosome7
Position255,869
mentionedby
Magnitude9
ReputeBad
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.