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: 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: rs74315433
rs74315433
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.040 GeneticVariation BEFREE Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients. 28950846 2017
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: 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: 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: 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: 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: 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: 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: 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: rs74315432
rs74315432
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: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 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, SPARC, SOD1, LOX, and TIMP3 in keratoconus. 21976959 2011
dbSNP: rs74315433
rs74315433
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: rs74315434
rs74315434
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: rs74315436
rs74315436
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: rs771561481
rs771561481
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation BEFREE Molecular analysis identified the VSX1 mutation Q175H in the affected brother and in the mother who had neither VKC nor keratoconus but only the VSX1 Q175H sequence change. 21365019 2011
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: 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: rs74315433
rs74315433
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: rs74315434
rs74315434
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: rs74315436
rs74315436
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: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 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 Mutational screening of VSX1 in keratoconus patients from the European population. 19763142 2010