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
dbSNP: rs104894881
rs104894881
NHS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1341004065
rs1341004065
NHS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1481421967
rs1481421967
NHS
G 0.700 CausalMutation CLINVAR

dbSNP: rs1556030707
rs1556030707
NHS
AG 0.700 CausalMutation CLINVAR

dbSNP: rs1556038355
rs1556038355
NHS
G 0.700 CausalMutation CLINVAR

dbSNP: rs1556039901
rs1556039901
NHS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569310232
rs1569310232
NHS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569310288
rs1569310288
NHS
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569319773
rs1569319773
NHS
A 0.700 CausalMutation CLINVAR

dbSNP: rs786205255
rs786205255
NHS
GC 0.700 CausalMutation CLINVAR

dbSNP: rs786205256
rs786205256
NHS
G 0.700 CausalMutation CLINVAR

dbSNP: rs786205257
rs786205257
NHS
G 0.700 CausalMutation CLINVAR

dbSNP: rs786205677
rs786205677
NHS
C 0.700 CausalMutation CLINVAR

dbSNP: rs875989805
rs875989805
NHS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs756852916
rs756852916
NHS ; LOC105373142
0.010 GeneticVariation BEFREE The donor splicing site mutation NM_198270: c.1045 + 2T > A of the NHS gene is the causative mutation in this Nance-Horan Syndrome family. 28061824

2017
dbSNP: rs187739639
rs187739639
NHS
0.010 GeneticVariation BEFREE The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). 24305999

2014
dbSNP: rs730880297
rs730880297
ITGB6
0.010 GeneticVariation BEFREE The male proband of Family 2 was homozygous for an ITGB6 transition mutation in Exon 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-Horan Syndrome (NHS Xp22.13; g.355444T > C c.1697T > C p.Met566Thr). 24305999

2014
dbSNP: rs150688899
rs150688899
NHS
0.010 GeneticVariation BEFREE Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. 21559051

2011
dbSNP: rs3747295
rs3747295
NHS
0.010 GeneticVariation BEFREE Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. 21559051

2011