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rs587777490(C;T)

From SNPedia
Carrier of a pathogenic mutation for osteopetrosis
Is agenotype
ofrs587777490
GeneSNX10
Chromosome7
Position26,360,996
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a pathogenic mutation for osteopetrosis
(T;T) 5.8 Osteopetrosis, type 8

Unaffected in absence of a second mutation in the SNX10 gene