Source: ALL

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: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.925 0.200 3 138946518 stop gained C/A;T snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 1.000 12 2001 2008
dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
1.000 0.200 3 138946073 missense variant G/A snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 0
dbSNP: rs1057516168
rs1057516168
FOXL2 ; FOXL2NB
1.000 0.200 3 138946079 missense variant T/C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.710 1.000 1 2004 2004
dbSNP: rs104893739
rs104893739
FOXL2 ; FOXL2NB
1.000 0.200 3 138946137 stop gained G/A snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs104893741
rs104893741
FOXL2 ; FOXL2NB
0.925 0.200 3 138946068 stop gained G/A snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516139
rs1057516139
FOXL2 ; FOXL2NB
1.000 0.200 3 138946708 stop gained G/T snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516140
rs1057516140
FOXL2 ; FOXL2NB
1.000 0.200 3 138946680 frameshift variant G/- delins
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516141
rs1057516141
FOXL2 ; FOXL2NB
1.000 0.200 3 138946552 stop gained G/C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516142
rs1057516142
FOXL2 ; FOXL2NB
1.000 0.200 3 138946550 stop gained G/C;T snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516144
rs1057516144
FOXL2 ; FOXL2NB
1.000 0.200 3 138946536 missense variant T/G snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516145
rs1057516145
FOXL2 ; FOXL2NB
1.000 0.200 3 138946528 missense variant C/T snv 7.0E-06
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516149
rs1057516149
FOXL2 ; FOXL2NB
1.000 0.200 3 138946431 missense variant A/G snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516150
rs1057516150
FOXL2 ; FOXL2NB
1.000 0.200 3 138946430 stop gained C/T snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516151
rs1057516151
FOXL2 ; FOXL2NB
1.000 0.200 3 138946420 missense variant G/C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516153
rs1057516153
FOXL2 ; FOXL2NB
1.000 0.200 3 138946412 missense variant T/C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516156
rs1057516156
FOXL2 ; FOXL2NB
1.000 0.200 3 138946407 missense variant G/A snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516157
rs1057516157
FOXL2 ; FOXL2NB
1.000 0.200 3 138946404 missense variant T/C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516158
rs1057516158
FOXL2 ; FOXL2NB
1.000 0.200 3 138946385 frameshift variant A/- del
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516159
rs1057516159
FOXL2 ; FOXL2NB
0.827 0.240 3 138946383 missense variant T/C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516161
rs1057516161
FOXL2 ; FOXL2NB
1.000 0.200 3 138946146 frameshift variant -/G delins
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516163
rs1057516163
FOXL2 ; FOXL2NB
1.000 0.200 3 138946141 stop gained G/A;C snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516164
rs1057516164
FOXL2 ; FOXL2NB
1.000 0.200 3 138946111 stop gained C/T snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516165
rs1057516165
FOXL2 ; FOXL2NB
1.000 0.200 3 138946105 frameshift variant T/- del
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516166
rs1057516166
FOXL2 ; FOXL2NB
1.000 0.200 3 138946071 frameshift variant -/ATAGGGCATGGGTGAGGGAGGC delins
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0
dbSNP: rs1057516167
rs1057516167
FOXL2 ; FOXL2NB
1.000 0.200 3 138946091 stop gained G/T snv
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 0