Source: UNIPROT

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: 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 17 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 17 1993 2014
dbSNP: rs121907919
rs121907919
PAX6
0.925 0.080 11 31800837 missense variant A/T snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 1.000 17 1993 2014
dbSNP: rs373661718
rs373661718
PAX6
1.000 0.080 11 31790836 missense variant A/C snv
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 1.000 17 1993 2014
dbSNP: rs749244084
rs749244084
PAX6
1.000 0.080 11 31794689 missense variant C/T snv 8.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 1.000 17 1993 2014
dbSNP: rs757259413
rs757259413
PAX6
0.925 0.080 11 31794690 missense variant G/A snv 4.0E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 1.000 17 1993 2014
dbSNP: rs200015827
rs200015827
PAX6 ; ELP4
1.000 0.080 11 31790769 missense variant G/C;T snv 4.0E-06; 2.6E-04
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 0
dbSNP: rs780356070
rs780356070
PAX6 ; ELP4
1.000 0.080 11 31789938 missense variant T/C snv 4.5E-06 7.7E-06
CUI: C0003076
Disease: Aniridia
Aniridia 		0.700 0