Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 5 2001 2018
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
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
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0042798
Disease: Low Vision
Low Vision 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
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
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
0.742 0.320 11 31789935 stop gained T/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 5 1999 2017
dbSNP: rs886041222
rs886041222
PAX6
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: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.700 0
dbSNP: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome 		0.700 0
dbSNP: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C1835698
Disease: Keratitis, hereditary
Keratitis, hereditary 		0.700 0
dbSNP: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.700 0
dbSNP: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C3805604
Disease: FOVEAL HYPOPLASIA 1
FOVEAL HYPOPLASIA 1 		0.700 0
dbSNP: rs886041222
rs886041222
PAX6
0.776 0.280 11 31793787 stop gained G/A snv
CUI: C1833797
Disease: Optic Nerve Hypoplasia, Bilateral
Optic Nerve Hypoplasia, Bilateral 		0.700 0
dbSNP: rs121907917
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 8 2009 2016
dbSNP: rs121907917
rs121907917
PAX6
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: rs121907917
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.720 1.000 0 2009 2009
dbSNP: rs121907913
rs121907913
PAX6
0.827 0.080 11 31802769 missense variant G/C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 0
dbSNP: rs121907913
rs121907913
PAX6
0.827 0.080 11 31802769 missense variant G/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 0