Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692297
rs1131692297
PAX6
0.010 GeneticVariation BEFREE We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background. 22393272

2012
dbSNP: rs121907914
rs121907914
PAX6
0.010 GeneticVariation BEFREE We identified a recurrent PAX6 c.307C>T mutation in an aniridia and congenital progressive cataract family, and summarized the variable phenotypes among the patients, which expanded the phenotypic spectrum of aniridia in a different ethnic background. 22393272

2012
dbSNP: rs121908192
rs121908192
GFER ; NOXO1
0.010 GeneticVariation BEFREE 84, 594-604] described an R194H mutation of human ALR that led to cataract, progressive muscle hypotonia, and hearing loss in three children. 20593814

2010
dbSNP: rs104893736
rs104893736
CRYGS
0.010 GeneticVariation BEFREE An autosomal dominant cortical progressive cataract has been associated with a G18V mutation in human gammaS-crystallin. 19558189

2009