PAX6, paired box 6, 5080

N. diseases: 55; N. variants: 109
Disease: Aniridia ×
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: 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: rs1131692318
rs1131692318 		0.925 0.080 11 31790710 stop gained C/A;G snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs121907913
rs121907913 		0.827 0.080 11 31802769 missense variant G/C 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: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye 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: rs1565200471
rs1565200471 		1.000 0.080 11 31793719 frameshift variant -/CT delins
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs200015827
rs200015827 		1.000 0.080 11 31790769 missense variant G/C;T snv 4.0E-06; 2.6E-04
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs397514640
rs397514640 		0.882 0.160 11 31802733 missense variant G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs780356070
rs780356070 		1.000 0.080 11 31789938 missense variant T/C snv 4.5E-06 7.7E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs794726661
rs794726661 		1.000 0.080 11 31790862 splice acceptor variant T/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs878852979
rs878852979 		0.925 0.080 11 31810826 splice donor variant A/T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0