Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs1057516172
rs1057516172
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516173
rs1057516173
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		CCCGCGGCTGCAGCCGCAGCTGCTGCAGCCG 0.700 CausalMutation CLINVAR

dbSNP: rs1057516174
rs1057516174
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516175
rs1057516175
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516176
rs1057516176
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		GT 0.700 CausalMutation CLINVAR

dbSNP: rs1057516178
rs1057516178
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1057516179
rs1057516179
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516180
rs1057516180
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR