Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 GeneticVariation UNIPROT

dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057516168
rs1057516168
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.710 CausalMutation CLINVAR

dbSNP: rs863225452
rs863225452
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		TGGCGATGAGCGCCAC 0.700 GeneticVariation CLINVAR

dbSNP: rs797044532
rs797044532
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		TGGGGGTGCGGCGGAGGC 0.700 CausalMutation CLINVAR

dbSNP: rs797044532
rs797044532
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797044531
rs797044531
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs797044530
rs797044530
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		TGCGGCGGAGGCGGGGGTGCGGCC 0.700 CausalMutation CLINVAR

dbSNP: rs797044529
rs797044529
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		AGGCGGGGGTGCGGCCGG 0.700 CausalMutation CLINVAR

dbSNP: rs797044528
rs797044528
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs797044528
rs797044528
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs764243782
rs764243782
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC 0.700 CausalMutation CLINVAR

dbSNP: rs759236439
rs759236439
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs672601359
rs672601359
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		GGAGGCGGGGGTGCGGCC 0.700 CausalMutation CLINVAR

dbSNP: rs672601358
rs672601358
FOXL2 ; FOXL2NB ; LINC01391
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		GGCTGGGCTGGCAGGGCTGA 0.700 CausalMutation CLINVAR

dbSNP: rs672601357
rs672601357
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		AGCGC 0.700 CausalMutation CLINVAR

dbSNP: rs387906321
rs387906321
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT 0.700 CausalMutation CLINVAR

dbSNP: rs28937884
rs28937884
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.700 GeneticVariation UNIPROT

dbSNP: rs1559922829
rs1559922829
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1559922782
rs1559922782
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1559922657
rs1559922657
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1559922647
rs1559922647
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1559922634
rs1559922634
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR