VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12480307
rs12480307
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
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
dbSNP: rs140122268
rs140122268
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation BEFREE Meta analysis of reports on an association of p.D144E change with keratoconus phenotype was performed. 17960127 2007
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
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
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
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
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.030 GeneticVariation BEFREE Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0024437
Disease:
Macular degeneration 		0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006
dbSNP: rs148957473
rs148957473
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0339284
Disease:
Polymorphous corneal dystrophy 		0.010 GeneticVariation BEFREE H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. 16384943 2006
dbSNP: rs201716527
rs201716527
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 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
dbSNP: rs267597889
rs267597889
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation BEFREE In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China. 28950846 2017
dbSNP: rs369865672
rs369865672
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0339284
Disease:
Polymorphous corneal dystrophy 		0.010 GeneticVariation BEFREE Two pathogenic changes were detected; a novel change c.173C>T (p.Pro58Leu) was found in a patient with PPCD, predicted to be pathogenic, and not seen in 200 ethnically matched control alleles. 23592923 2013
dbSNP: rs56157240
rs56157240
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
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
dbSNP: rs576300014
rs576300014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 11978762 2002
dbSNP: rs576300014
rs576300014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. 21976959 2011
dbSNP: rs576300014
rs576300014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT Mutational screening of VSX1 in keratoconus patients from the European population. 19763142 2010
dbSNP: rs576300014
rs576300014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT A novel VSX1 mutation identified in an individual with keratoconus in India. 19956409 2009
dbSNP: rs576300014
rs576300014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
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
dbSNP: rs576300014
rs576300014
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.700 GeneticVariation UNIPROT Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs6050307
rs6050307
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
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
dbSNP: rs6050307
rs6050307
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
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
dbSNP: rs6115024
rs6115024
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6138482
rs6138482
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation BEFREE We did discover a significant association of 627+23G>A polymorphism distribution (VSX1) with unrelated patients diagnosed with the hereditary form of KC. 20023586 2010
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT A novel VSX1 mutation identified in an individual with keratoconus in India. 19956409 2009
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		A 0.800 CausalMutation CLINVAR