VSX1, visual system homeobox 1, 30813

N. diseases: 95; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs74315432
rs74315432 		0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.800 1.000 6 2002 2011
dbSNP: rs74315435
rs74315435 		1.000 20 25077727 missense variant C/A snv 9.8E-05; 2.0E-04 6.1E-04
CUI: C3280099
Disease: CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME 		0.800 1.000 1 2004 2004
dbSNP: rs576300014
rs576300014 		1.000 0.040 20 25077753 missense variant G/A;C snv 6.5E-06; 4.9E-04
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 1.000 6 2002 2011
dbSNP: rs74315433
rs74315433 		0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 1.000 6 2002 2011
dbSNP: rs74315434
rs74315434 		0.925 0.040 20 25079464 missense variant A/G;T snv 4.0E-06; 4.8E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 1.000 6 2002 2011
dbSNP: rs74315436
rs74315436 		1.000 0.040 20 25082047 missense variant A/G snv 1.3E-04 1.3E-04
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 1.000 6 2002 2011
dbSNP: rs6115024
rs6115024 		20 25083676 upstream gene variant A/C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs148957473
rs148957473 		0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs749663315
rs749663315 		1.000 0.040 20 25077778 missense variant C/A;G snv 6.5E-06; 1.9E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs771561481
rs771561481 		0.925 0.040 20 25078931 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1 		Eye Diseases 0.700 0
dbSNP: rs74315433
rs74315433 		0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.040 1.000 4 2002 2017
dbSNP: rs148957473
rs148957473 		0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.030 0.667 3 2008 2013
dbSNP: rs74315432
rs74315432 		0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.030 0.667 3 2002 2011
dbSNP: rs6050307
rs6050307 		1.000 0.040 20 25081706 missense variant G/A;T snv 9.7E-06; 7.2E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.020 1.000 2 2013 2015
dbSNP: rs12480307
rs12480307 		1.000 0.040 20 25078910 synonymous variant T/C snv 0.26 0.30
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs140122268
rs140122268 		1.000 0.040 20 25079507 missense variant G/C snv 3.4E-03 2.9E-03
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs148957473
rs148957473 		0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs148957473
rs148957473 		0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03
CUI: C0024437
Disease: Macular degeneration
Macular degeneration 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs148957473
rs148957473 		0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs201716527
rs201716527 		1.000 0.040 20 25079487 missense variant T/C snv 7.6E-05 3.5E-05
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs267597889
rs267597889 		1.000 0.040 20 25081705 missense variant C/G snv
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs369865672
rs369865672 		1.000 0.080 20 25081924 missense variant G/A snv 8.8E-04 8.6E-04
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs56157240
rs56157240 		1.000 0.040 20 25078745 synonymous variant A/T snv 0.26 0.30
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6138482
rs6138482 		1.000 0.040 20 25078806 missense variant C/G;T snv 0.21
CUI: C0022578
Disease: Keratoconus
Keratoconus 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs74315433
rs74315433 		0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2005 2005