DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) ×

Variants associated to the Gene: FOXL2 ×

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	Num. diseases
rs1057516161	FOXL2 ; FOXL2NB	1.000	0.200	3	138946146	frameshift variant	-/G	delins		1
rs1057516163	FOXL2NB ; FOXL2	1.000	0.200	3	138946141	stop gained	G/A;C	snv		1
rs1057516164	FOXL2 ; FOXL2NB	1.000	0.200	3	138946111	stop gained	C/T	snv		1
rs1057516165	FOXL2 ; FOXL2NB	1.000	0.200	3	138946105	frameshift variant	T/-	del		1
rs1057516166	FOXL2 ; FOXL2NB	1.000	0.200	3	138946071	frameshift variant	-/ATAGGGCATGGGTGAGGGAGGC	delins		1
rs1057516167	FOXL2NB ; FOXL2	1.000	0.200	3	138946091	stop gained	G/T	snv		1
rs1057516168	FOXL2 ; FOXL2NB	1.000	0.200	3	138946079	missense variant	T/C	snv		1
rs1057516170	FOXL2NB ; FOXL2	1.000	0.200	3	138946034	frameshift variant	GCAGCTGCTGCAGCCGCTGCGGCTGCCG/-	del		1
rs1057516172	FOXL2 ; FOXL2NB	1.000	0.200	3	138946028	frameshift variant	GCAGCCGCAGCTGCTGCAGCCG/-	del		1
rs1057516173	FOXL2 ; LINC01391 ; FOXL2NB	1.000	0.200	3	138946020	inframe insertion	GGCTGCAGCCGCAGCTGCTGCAGCCGC/-;GGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC	delins		1
rs1057516174	LINC01391 ; FOXL2 ; FOXL2NB	1.000	0.200	3	138946018	frameshift variant	CGCGGCTGCAGCCGCAGCTGCTGCAGCC/-	delins		1
rs1057516175	FOXL2NB ; LINC01391 ; FOXL2	1.000	0.200	3	138945974	frameshift variant	CC/-	delins		1
rs1057516176	FOXL2 ; LINC01391 ; FOXL2NB	1.000	0.200	3	138945945	frameshift variant	-/T	delins		1
rs1057516178	LINC01391 ; FOXL2 ; FOXL2NB	1.000	0.200	3	138945895	frameshift variant	-/C	delins		1
rs1057516179	LINC01391 ; FOXL2NB ; FOXL2	1.000	0.200	3	138945852	frameshift variant	GGTGCGGCGGAGGCGGGGGTGCGGCCGGCGGG/-	delins		1
rs1057516180	LINC01391 ; FOXL2 ; FOXL2NB	1.000	0.200	3	138945866	frameshift variant	GG/T	delins		1
rs1057516181	FOXL2NB ; LINC01391 ; FOXL2	1.000	0.200	3	138945830	frameshift variant	-/G	delins		1
rs1057516182	LINC01391 ; FOXL2NB ; FOXL2	1.000	0.200	3	138945796	frameshift variant	-/GGCAGGCGGCGGTGCGGCGG	delins		1
rs1057516183	LINC01391 ; FOXL2NB ; FOXL2	1.000	0.200	3	138945761	frameshift variant	-/CCGGCGGCGGC	delins		1
rs1057516184	FOXL2NB ; FOXL2 ; LINC01391	1.000	0.200	3	138945741	frameshift variant	C/-	del		1
rs1057516185	FOXL2NB ; FOXL2 ; LINC01391	1.000	0.200	3	138945712	frameshift variant	G/-	delins		1
rs1060499717	FOXL2 ; FOXL2NB	1.000	0.200	3	138946233	stop gained	T/A	snv		1
rs1226344391	FOXL2 ; FOXL2NB	1.000	0.200	3	138946457	missense variant	G/A;C	snv		1
rs1315073489	FOXL2NB ; FOXL2	1.000	0.200	3	138946535	missense variant	A/G;T	snv	4.0E-06	1
rs1553752849	FOXL2NB ; FOXL2	1.000	0.200	3	138946022	protein altering variant	-/GCGGCTGCAGCCGCAGCTGCTGCAGCCGCT	ins		1