Variant: rs132630322 

    present in Gene: NHS
    present in Chromosome: X
    Position on Chromosome: 17724370
    Alleles of this Variant: C/T

rs132630322 in NHS gene and Nance-Horan syndrome PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 18949062 2008 Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.