Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630322
rs132630322
NHS
T 0.700 CausalMutation CLINVAR Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. 24968223

2014
dbSNP: rs132630322
rs132630322
NHS
T 0.700 CausalMutation CLINVAR Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. 18949062

2008
dbSNP: rs132630322
rs132630322
NHS
T 0.700 CausalMutation CLINVAR Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. 14564667

2003