PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
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: rs1057517780
rs1057517780 		1.000 0.080 11 31802736 frameshift variant C/-;CC delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057517783
rs1057517783 		1.000 0.080 11 31793651 splice donor variant C/G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: 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: rs1131692282
rs1131692282 		1.000 0.080 11 31806927 splice acceptor variant T/- del
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs1131692285
rs1131692285 		1.000 0.080 11 31802826 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 0
dbSNP: rs1131692286
rs1131692286 		0.882 0.080 11 31802767 frameshift variant C/- delins
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1131692286
rs1131692286 		0.882 0.080 11 31802767 frameshift variant C/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2017 2017
dbSNP: rs1131692286
rs1131692286 		0.882 0.080 11 31802767 frameshift variant C/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1131692287
rs1131692287 		1.000 0.080 11 31802719 frameshift variant AA/G delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692289
rs1131692289 		0.925 0.080 11 31802705 missense variant T/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1131692289
rs1131692289 		0.925 0.080 11 31802705 missense variant T/C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692290
rs1131692290 		1.000 0.080 11 31802700 splice region variant T/C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692291
rs1131692291 		1.000 0.080 11 31801790 non coding transcript exon variant 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: rs1131692292
rs1131692292 		1.000 0.080 11 31801781 splice region variant A/C;G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692293
rs1131692293 		0.925 0.080 11 31801767 missense variant C/T snv
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1131692293
rs1131692293 		0.925 0.080 11 31801767 missense variant C/T snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692294
rs1131692294 		1.000 0.080 11 31801754 missense variant T/G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692295
rs1131692295 		1.000 0.080 11 31801734 stop gained C/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692296
rs1131692296 		1.000 0.080 11 31801674 stop gained C/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692297
rs1131692297 		0.882 0.080 11 31801653 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1131692297
rs1131692297 		0.882 0.080 11 31801653 stop gained G/A snv
CUI: C4021566
Disease: Progressive cataract
Progressive cataract 		Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1131692297
rs1131692297 		0.882 0.080 11 31801653 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