Variant: rs398123011 

    present in Gene: SNX10
    present in Chromosome: 7
    Position on Chromosome: 26364575
    Alleles of this Variant: G/A

rs398123011 in SNX10 gene and OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 PMID 23280965 2013 SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.

PMID 22499339 2012 An SNX10 mutation causes malignant osteopetrosis of infancy.

PMID 23123320 2013 Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.