|
rs397515624
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The rest one, a heterozygous c.34C>T (p.Arg12Cys) mutation in CRYAA, was identified in three patients from a family with nuclear cataract, microcornea with axial elongation.
|
21686328 |
2011 |
|
rs397515624
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, we report a novel nonsense mutation (Y56X) in CRYGD and a previously reported missense mutation (R12C) in CRYAA associated with nuclear cataract in Brazilian families.
|
19390652 |
2009 |
|
rs1198082657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, a novel genetic variation (c.1328A>G; p.N443S) in exon 3 of DMT1 gene was observed in a subject with nuclear cataract.
|
30870050 |
2019 |
|
rs755622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate an association between single nucleotide polymorphism of the MIF gene -rs755622 and serum MIF concentrations in NS patients.
|
26541175 |
2016 |
|
rs1063147
|
|
|
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 |
|
rs11574311
|
|
|
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 |
|
rs2725338
|
|
|
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 |
|
rs2725383
|
|
|
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 |
|
rs4733220
|
|
|
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 |
|
rs121434643
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.
|
21174522 |
2011 |
|
rs74315439
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma.
|
17296897 |
2007 |
|
rs202235939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, a substitution (W151C in exon 6 of CRYBB2) was identified as the most likely causative mutation underlying the phenotype of central nuclear cataract in all affected members of family C176.
|
15452067 |
2004 |