Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs529612732
rs529612732
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.010 GeneticVariation BEFREE A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on ovarian phenotypes in BPES patients. 22926839

2012
dbSNP: rs104893739
rs104893739
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104893741
rs104893741
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516139
rs1057516139
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516140
rs1057516140
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516141
rs1057516141
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057516142
rs1057516142
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516142
rs1057516142
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516144
rs1057516144
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516145
rs1057516145
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516149
rs1057516149
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516150
rs1057516150
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516151
rs1057516151
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516153
rs1057516153
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516156
rs1057516156
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516157
rs1057516157
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516158
rs1057516158
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516159
rs1057516159
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516161
rs1057516161
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs1057516163
rs1057516163
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057516164
rs1057516164
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516165
rs1057516165
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516166
rs1057516166
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		AGGAGGCATAGGGCATGGGTGAG 0.700 CausalMutation CLINVAR

dbSNP: rs1057516167
rs1057516167
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516170
rs1057516170
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR