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: rs121907927
rs121907927 		1.000 0.080 11 31794072 missense variant C/G snv 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 17 1993 2014
dbSNP: rs121907928
rs121907928 		0.925 0.080 11 31801561 missense variant G/A;C;T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 17 1993 2014
dbSNP: rs121907918
rs121907918 		0.925 0.080 11 31800832 missense variant G/A;T snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.800 1.000 2 1996 1999
dbSNP: rs121907925
rs121907925 		0.882 0.080 11 31793795 missense variant A/G snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2003 2003
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: 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: 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: rs121907919
rs121907919 		0.925 0.080 11 31800837 missense variant A/T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs373661718
rs373661718 		1.000 0.080 11 31790836 missense variant A/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs749244084
rs749244084 		1.000 0.080 11 31794689 missense variant C/T snv 8.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs757259413
rs757259413 		0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 17 1993 2014
dbSNP: rs121907917
rs121907917 		0.807 0.240 11 31794079 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 1.000 8 2009 2016
dbSNP: rs121907917
rs121907917 		0.807 0.240 11 31794079 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 8 2009 2016
dbSNP: rs1057517785
rs1057517785 		0.925 0.080 11 31793521 stop gained G/A;C snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 1994 2016
dbSNP: rs1057517785
rs1057517785 		0.925 0.080 11 31793521 stop gained G/A;C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 1994 2016
dbSNP: rs1131692284
rs1131692284 		0.925 0.080 11 31806411 start lost T/C;G snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 1999 2017
dbSNP: rs1131692284
rs1131692284 		0.925 0.080 11 31806411 start lost T/C;G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 1999 2017
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 2001 2018
dbSNP: rs121907922
rs121907922 		0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 5 2001 2018
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 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 1.000 5 1999 2017
dbSNP: rs886041222
rs886041222 		0.776 0.280 11 31793787 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 5 1999 2017
dbSNP: rs886044289
rs886044289 		0.925 0.080 11 31802793 missense variant C/G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 4 1998 2010
dbSNP: rs886044289
rs886044289 		0.925 0.080 11 31802793 missense variant C/G snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 4 1998 2010
dbSNP: rs121907913
rs121907913 		0.827 0.080 11 31802769 missense variant G/C snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 3 1994 2003
dbSNP: rs398123295
rs398123295 		0.925 0.080 11 31801560 splice donor variant C/T snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 1993 2016