Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375933774
rs375933774
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.010 GeneticVariation BEFREE Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts. 26402864

2015
dbSNP: rs398122392
rs398122392
CRYGC ; LOC100507443
0.010 GeneticVariation BEFREE Direct sequencing of the candidate CRYGA-CRYGD gene cluster revealed a c.470G>A transversion in exon 3 of CRYGC, which cosegregated with cataracts in the family and was not observed in 100 normal controls. 19204787

2009
dbSNP: rs398122944
rs398122944
CRYGC ; LOC100507443
0.010 GeneticVariation BEFREE This study identified a disease-causing mutation c.471G>A in CRYGC in a Chinese family with cataracts, expanding the mutation spectrum of CRYGC causing congenital cataracts. 22876111

2012
dbSNP: rs4733220
rs4733220
WRN
0.010 GeneticVariation BEFREE The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). 23322570

2013
dbSNP: rs5030732
rs5030732
UCHL1 ; UCHL1-AS1
0.010 GeneticVariation BEFREE Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts. 21268678

2011
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
0.010 GeneticVariation BEFREE Two mutations (p.Tyr139X and p.Ser166Phe) identified in two unrelated families were associated with their congenital nuclear cataracts and microcornea respectively, which are also reported previously. 28298635

2017
dbSNP: rs74315441
rs74315441
CRYAA ; LOC107987300
0.010 GeneticVariation BEFREE Unexpectedly, alphaA-R49C homozygosity led to small eye phenotype and severe cataracts at birth. 18056999

2008
dbSNP: rs750872744
rs750872744
CRYGC ; LOC100507443
0.010 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753

2016
dbSNP: rs781902168
rs781902168
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.010 GeneticVariation BEFREE Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts. 26402864

2015
dbSNP: rs78378222
rs78378222
TP53
0.010 GeneticVariation BEFREE rs78378222 polymorphism in the 3'-untranslated region of TP53 contributes to development of age-associated cataracts by modifying microRNA-125b-induced apoptosis of lens epithelial cells. 27431420

2016
dbSNP: rs79121622
rs79121622
HSF4
0.010 GeneticVariation BEFREE Here, we demonstrate via BAC (bacterial artificial chromosome) transgenesis that p.Arg116His recreates the childhood lamellar cataract in mice suggesting that incomplete penetrance associated with early cataracts may not be an absence but a limitation of the detection of the phenotype. 24975927

2014
dbSNP: rs80084721
rs80084721
GALK1
0.010 GeneticVariation BEFREE A population study for A198V revealed prevalences of 4.1% in Japanese and 2.8% in Koreans, lower incidence in Taiwanese and Chinese, no incidence in blacks and whites from the United States, and a significantly high frequency (7.8%; P < .023) in Japanese individuals with bilateral cataract. 11231902

2001
dbSNP: rs80338829
rs80338829
MYH9
0.010 GeneticVariation BEFREE Two cases had Alport manifestations including deafness, nephritis, and cataracts and had R1165C and E1841K mutations, respectively. 11776386

2001
dbSNP: rs930526408
rs930526408
BFSP2 ; BFSP2-AS1
0.010 GeneticVariation BEFREE A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. 18958306

2008