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: rs151021417
rs151021417 		0.925 0.080 1 63323575 missense variant A/C snv 7.2E-05 1.2E-04
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		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: rs184767331
rs184767331 		0.925 0.080 1 63323105 missense variant C/T snv 4.5E-04 4.4E-04
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		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
dbSNP: rs202186939
rs202186939 		0.925 0.080 1 63323417 missense variant C/T snv 1.1E-03 9.3E-04
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs78645479
rs78645479 		0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv
CUI: C0006840
Disease: Candidiasis
Candidiasis 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs78645479
rs78645479 		0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs78645479
rs78645479 		0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs78645479
rs78645479 		0.851 0.120 1 63322631 5 prime UTR variant C/G;T snv
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015