FOXD3, forkhead box D3, 27022

N. diseases: 78; N. variants: 4
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: rs151021417
rs151021417
0.925 0.080 1 63323575 missense variant A/C snv 7.2E-05 1.2E-04
CUI: C0003076
Disease: Aniridia
Aniridia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs184767331
rs184767331
0.925 0.080 1 63323105 missense variant C/T snv 4.5E-04 4.4E-04
CUI: C0003076
Disease: Aniridia
Aniridia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs202186939
rs202186939
0.925 0.080 1 63323417 missense variant C/T snv 1.1E-03 9.3E-04
CUI: C0003076
Disease: Aniridia
Aniridia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012