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: rs121907918
rs121907918
PAX6
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 0 1996 1999
dbSNP: rs121907925
rs121907925
PAX6
0.882 0.080 11 31793795 missense variant A/G snv
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.800 1.000 0 2003 2003
dbSNP: rs121907927
rs121907927
PAX6
1.000 0.080 11 31794072 missense variant C/G snv 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		0.800 1.000 0 1993 2014
dbSNP: rs121907928
rs121907928
PAX6
0.925 0.080 11 31801561 missense variant G/A;C;T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.800 1.000 0 1993 2014
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: rs121907914
rs121907914
PAX6
0.882 0.080 11 31801611 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.710 1.000 0 2012 2012
dbSNP: rs121907916
rs121907916
PAX6
0.882 0.080 11 31794705 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.710 1.000 0 2016 2016
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: rs1057517785
rs1057517785
PAX6
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
PAX6
0.925 0.080 11 31793521 stop gained G/A;C snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 5 1994 2016
dbSNP: rs1131692284
rs1131692284
PAX6
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
PAX6
0.925 0.080 11 31806411 start lost T/C;G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 5 1999 2017
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: 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: rs886044289
rs886044289
PAX6
0.925 0.080 11 31802793 missense variant C/G snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 4 1998 2010
dbSNP: rs886044289
rs886044289
PAX6
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: rs398123295
rs398123295
PAX6
0.925 0.080 11 31801560 splice donor variant C/T snv
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 3 1993 2016
dbSNP: rs398123295
rs398123295
PAX6
0.925 0.080 11 31801560 splice donor variant C/T snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 3 1993 2016
dbSNP: rs1131692304
rs1131692304
PAX6
0.925 0.080 11 31800811 stop gained G/A snv
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 2 1998 2017
dbSNP: rs1131692304
rs1131692304
PAX6
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: rs1554984996
rs1554984996
PAX6
0.925 0.080 11 31800719 frameshift variant C/- delins
CUI: C0344542
Disease: Aniridia type 1
Aniridia type 1 		0.700 1.000 2 2005 2014
dbSNP: rs1554984996
rs1554984996
PAX6
0.925 0.080 11 31800719 frameshift variant C/- delins
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		0.700 1.000 2 2005 2014