Source: BEFREE

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: rs121907917
rs121907917
PAX6
0.807 0.240 11 31794079 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.720 1.000 2 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 1 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 1 2016 2016
dbSNP: rs1131692289
rs1131692289
PAX6
0.925 0.080 11 31802705 missense variant T/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2019 2019
dbSNP: rs1131692297
rs1131692297
PAX6
0.882 0.080 11 31801653 stop gained G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2012 2012
dbSNP: rs1398849685
rs1398849685
RAX
1.000 0.080 18 59269327 missense variant G/A;T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2009 2009
dbSNP: rs151021417
rs151021417
FOXD3 ; FOXD3-AS1
0.925 0.080 1 63323575 missense variant A/C snv 7.2E-05 1.2E-04
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2012 2012
dbSNP: rs184767331
rs184767331
FOXD3 ; FOXD3-AS1
0.925 0.080 1 63323105 missense variant C/T snv 4.5E-04 4.4E-04
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2012 2012
dbSNP: rs202186939
rs202186939
FOXD3 ; FOXD3-AS1
0.925 0.080 1 63323417 missense variant C/T snv 1.1E-03 9.3E-04
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2012 2012
dbSNP: rs747126705
rs747126705
PITX2
1.000 0.080 4 110618292 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2016 2016
dbSNP: rs759557055
rs759557055
PAX6
0.925 0.120 11 31801704 missense variant C/A;T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2019 2019
dbSNP: rs763807196
rs763807196
PAX6
1.000 0.080 11 31801744 synonymous variant G/A snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.010 1.000 1 2019 2019