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rs398123011(A;G)

From SNPedia
Carrier of a pathogenic mutation for osteopetrosis
Is agenotype
ofrs398123011
GeneSNX10
Chromosome7
Position26,364,575
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 5.8 Osteopetrosis, type 8
(A;G) 3 Carrier of a pathogenic mutation for osteopetrosis
(G;G) 0 common in clinvar

Unaffected in absence of a second mutation in the SNX10 gene