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: rs1131692298
rs1131692298 		1.000 0.080 11 31801623 frameshift variant -/AAGA delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692299
rs1131692299 		1.000 0.080 11 31801620 frameshift variant AAGCAA/TGAAC delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692300
rs1131692300 		1.000 0.080 11 31801618 stop gained 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: rs1131692301
rs1131692301 		1.000 0.080 11 31801565 frameshift variant G/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692302
rs1131692302 		1.000 0.080 11 31800841 frameshift variant TTTATTG/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692303
rs1131692303 		1.000 0.080 11 31800813 frameshift variant T/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692304
rs1131692304 		0.925 0.080 11 31800811 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 2 1998 2017
dbSNP: rs1131692304
rs1131692304 		0.925 0.080 11 31800811 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 2 1998 2017
dbSNP: rs1131692305
rs1131692305 		1.000 0.080 11 31800761 frameshift variant CCCGT/GTTCCGG delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692306
rs1131692306 		1.000 0.080 11 31800747 stop gained 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: rs1131692307
rs1131692307 		1.000 0.080 11 31800723 frameshift variant G/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692308
rs1131692308 		0.925 0.080 11 31800703 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 1 2017 2017
dbSNP: rs1131692308
rs1131692308 		0.925 0.080 11 31800703 stop gained G/A snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 1 2017 2017
dbSNP: rs1131692309
rs1131692309 		1.000 0.080 11 31794651 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: rs1131692310
rs1131692310 		1.000 0.080 11 31794115 splice acceptor 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: rs1131692312
rs1131692312 		1.000 0.080 11 31794037 frameshift variant T/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692313
rs1131692313 		1.000 0.080 11 31793775 frameshift variant -/T delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692314
rs1131692314 		1.000 0.080 11 31793774 stop gained 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: rs1131692315
rs1131692315 		1.000 0.080 11 31793689 frameshift variant G/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692316
rs1131692316 		1.000 0.080 11 31793432 missense variant A/C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692317
rs1131692317 		1.000 0.080 11 31790843 frameshift variant CTGG/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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: rs1131692318
rs1131692318 		0.925 0.080 11 31790710 stop gained C/A;G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1131692319
rs1131692319 		1.000 0.080 11 31790708 splice donor variant A/G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		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