PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Source: CURATED ×
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: rs121907912
rs121907912 		1.000 0.080 11 31800808 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907914
rs121907914 		0.882 0.080 11 31801611 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 0 2012 2012
dbSNP: rs121907914
rs121907914 		0.882 0.080 11 31801611 stop gained G/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907915
rs121907915 		0.925 0.080 11 31790835 stop gained G/C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907915
rs121907915 		0.925 0.080 11 31790835 stop gained G/C snv
CUI: C3805349
Disease: CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 		0.700 0
dbSNP: rs121907916
rs121907916 		0.882 0.080 11 31794705 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.710 1.000 0 2016 2016
dbSNP: rs121907916
rs121907916 		0.882 0.080 11 31794705 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs121907916
rs121907916 		0.882 0.080 11 31794705 stop gained G/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907917
rs121907917 		0.807 0.240 11 31794079 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.720 1.000 0 2009 2009
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0042798
Disease: Low Vision
Low Vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		Eye Diseases 0.700 0
dbSNP: rs121907924
rs121907924 		1.000 0.080 11 31794699 stop gained G/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121907929
rs121907929 		1.000 0.080 11 31793797 stop gained C/T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1329112134
rs1329112134 		0.925 0.080 11 31802725 stop gained G/A;T snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1329112134
rs1329112134 		0.925 0.080 11 31802725 stop gained G/A;T snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 0
dbSNP: rs1411880763
rs1411880763 		1.000 0.080 11 31790805 stop gained G/A;T snv 8.0E-06 7.0E-06
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs141873759
rs141873759 		1.000 0.080 11 31802715 stop gained G/A;T snv 4.4E-04
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0