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: 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: 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: 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 		0.800 GeneticVariation UNIPROT Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. 18216574 2008
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. 15623752 2005
dbSNP: rs74315435
rs74315435
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C3280099
Disease:
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME 		0.800 GeneticVariation UNIPROT VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. 15051220 2004
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		0.800 GeneticVariation UNIPROT VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 11978762 2002
dbSNP: rs74315432
rs74315432
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C1835677
Disease:
Keratoconus 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315435
rs74315435
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
CUI: C3280099
Disease:
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME 		A 0.800 CausalMutation CLINVAR
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: 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: 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: rs74315433
rs74315433
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: rs74315434
rs74315434
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: rs74315436
rs74315436
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: 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: 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: rs74315433
rs74315433
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: rs74315434
rs74315434
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