rs74315434
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
Mutational screening of VSX1 in keratoconus patients from the European population.
19763142
2010
rs74315434
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
A novel VSX1 mutation identified in an individual with keratoconus in India.
19956409
2009
rs74315434
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
15623752
2005
rs74315434
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
11978762
2002
rs74315436
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
15623752
2005
rs74315436
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
21976959
2011
rs74315436
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
18216574
2008
rs74315436
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
Mutational screening of VSX1 in keratoconus patients from the European population.
19763142
2010
rs74315436
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
11978762
2002
rs74315436
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
A novel VSX1 mutation identified in an individual with keratoconus in India.
19956409
2009
rs749663315
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
rs771561481
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus 1
0.700
GeneticVariation
UNIPROT
rs74315433
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.040
GeneticVariation
BEFREE
Another heterozygous sequence variant (p.Gly160Val ) in the second exon was found in two keratoconus patients.
28950846
2017
rs74315433
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.040
GeneticVariation
BEFREE
The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%).
18626569
2008
rs74315433
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.040
GeneticVariation
BEFREE
The change in p.G160D was observed in two patients with sporadic keratoconus .
19763142
2010
rs74315433
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.040
GeneticVariation
BEFREE
Two other sequence changes (L159M and G160D ) were associated with keratoconus and PPD, respectively, and involved a region adjacent to the homeodomain.
11978762
2002
rs148957473
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.030
GeneticVariation
BEFREE
The previously reported c.731A>G (p.His244Arg ) was detected in a patient with sporadic keratoconus , and not present in the controls.
23592923
2013
rs148957473
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.030
GeneticVariation
BEFREE
Taken together, our results suggest that p.R166W and p.H244R could have possible pathogenic influences on KTCN .
22171159
2011
rs148957473
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.030
GeneticVariation
BEFREE
Three VSX1 gene mutations, L159M, R166W, and H244R , are not associated with keratoconus .
18216574
2008
rs74315432
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.030
GeneticVariation
BEFREE
Taken together, our results suggest that p.R166W and p. H244R could have possible pathogenic influences on KTCN .
22171159
2011
rs74315432
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.030
GeneticVariation
BEFREE
Three VSX1 gene mutations, L159M, R166W , and H244R, are not associated with keratoconus .
18216574
2008
rs74315432
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.030
GeneticVariation
BEFREE
One of the mutation (R166W ) responsible for keratoconus altered the homeodomain and impaired DNA binding.
11978762
2002
rs6050307
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.020
GeneticVariation
BEFREE
Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307, p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307 , p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23).
23289806
2013
rs6050307
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.020
GeneticVariation
BEFREE
SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC .
25675348
2015
rs12480307
×
Entrez Id:
30813
Gene Symbol:
VSX1
VSX1
Keratoconus
0.010
GeneticVariation
BEFREE
Three tSNPs in the VSX1 gene were observed to be associated with KTCN risk at a 5% level by χ(2) test (rs56157240 and rs12480307 , p = 0.0499, OR: 6.42, 95% CI: 0.77-53.78; rs6050307, p = 1.22 × 10(-7), OR: 0.05, 95% CI: 0.01-0.23).
23289806
2013