FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
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: rs367943249
rs367943249 		1.000 0.040 1 47416772 missense variant G/A;C snv 4.2E-06
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		0.800 1.000 1 2016 2016
dbSNP: rs749960549
rs749960549 		1.000 0.040 1 47416725 missense variant G/A snv 2.4E-05
CUI: C4479235
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 		0.800 1.000 1 2016 2016
dbSNP: rs371048362
rs371048362 		1.000 0.040 1 47416584 missense variant G/A;T snv 8.6E-05
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		Eye Diseases 0.700 1.000 5 2001 2015
dbSNP: rs1057518737
rs1057518737 		1.000 0.040 1 47416666 missense variant C/G snv
CUI: C2751822
Disease: Cataract, Autosomal Recessive Congenital 3
Cataract, Autosomal Recessive Congenital 3 		Eye Diseases 0.700 0
dbSNP: rs1057518738
rs1057518738 		1.000 0.040 1 47416622 missense variant G/A snv
CUI: C2751822
Disease: Cataract, Autosomal Recessive Congenital 3
Cataract, Autosomal Recessive Congenital 3 		Eye Diseases 0.700 0
dbSNP: rs1391534565
rs1391534565 		1.000 0.040 1 47416805 missense variant C/A snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs367943249
rs367943249 		1.000 0.040 1 47416772 missense variant G/A;C snv 4.2E-06
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs377669670
rs377669670 		0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs377669670
rs377669670 		0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		Eye Diseases 0.700 0
dbSNP: rs387906793
rs387906793 		1.000 0.040 1 47417274 stop lost G/T snv
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		Eye Diseases 0.700 0
dbSNP: rs746531116
rs746531116 		1.000 0.040 1 47416559 missense variant A/G snv 9.3E-05 5.0E-05
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		Eye Diseases 0.700 0
dbSNP: rs749960549
rs749960549 		1.000 0.040 1 47416725 missense variant G/A snv 2.4E-05
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs755377651
rs755377651 		0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		Eye Diseases 0.700 0
dbSNP: rs755377651
rs755377651 		0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80358194
rs80358194 		0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04
CUI: C0003534
Disease: Aphakia
Aphakia 		Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80358194
rs80358194 		0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010