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: 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: 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: 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