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 ×

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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	AF GENOME	Num. diseases
rs1057516159	FOXL2 ; FOXL2NB	0.827	0.240	3	138946383	missense variant	T/C	snv			6
rs121908359	FOXL2NB ; FOXL2	0.851	0.240	3	138946163	missense variant	C/T	snv	4.5E-05	7.0E-06	4
rs387906321	FOXL2 ; FOXL2NB	0.882	0.200	3	138946022	inframe insertion	AGCCGCAGCTGCTGCAGCCGCTGCGGCTGC/-;AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCAGCCGCAGCTGCTGCAGCCGCTGCGGCTGC	delins	4.3E-05; 4.3E-05; 4.3E-05		3
rs797044528	FOXL2 ; FOXL2NB ; LINC01391	0.882	0.200	3	138945919	frameshift variant	G/-;GG	delins			3
rs797044532	LINC01391 ; FOXL2NB ; FOXL2	0.882	0.200	3	138945852	frameshift variant	GGAGGCGGGGGTGCGGC/-;GGAGGCGGGGGTGCGGCGGAGGCGGGGGTGCGGC	delins			3
rs104893741	FOXL2 ; FOXL2NB	0.925	0.200	3	138946068	stop gained	G/A	snv			2
rs28937884	FOXL2 ; FOXL2NB	0.925	0.200	3	138946472	missense variant	A/C	snv			2
rs387906920	FOXL2NB ; FOXL2	0.925	0.200	3	138946518	stop gained	C/A;T	snv			2
rs863225452	FOXL2NB ; FOXL2	0.925	0.200	3	138946530	inframe insertion	-/GCGATGAGCGCCACG	delins			2
rs104893739	FOXL2 ; FOXL2NB	1.000	0.200	3	138946137	stop gained	G/A	snv			1
rs1057516139	FOXL2 ; FOXL2NB	1.000	0.200	3	138946708	stop gained	G/T	snv			1
rs1057516140	FOXL2 ; FOXL2NB	1.000	0.200	3	138946680	frameshift variant	G/-	delins			1
rs1057516142	FOXL2 ; FOXL2NB	1.000	0.200	3	138946550	stop gained	G/C;T	snv			1
rs1057516145	FOXL2 ; FOXL2NB	1.000	0.200	3	138946528	missense variant	C/T	snv		7.0E-06	1
rs1057516150	FOXL2 ; FOXL2NB	1.000	0.200	3	138946430	stop gained	C/T	snv			1
rs1057516151	FOXL2 ; FOXL2NB	1.000	0.200	3	138946420	missense variant	G/C	snv			1
rs1057516153	FOXL2 ; FOXL2NB	1.000	0.200	3	138946412	missense variant	T/C	snv			1
rs1057516157	FOXL2 ; FOXL2NB	1.000	0.200	3	138946404	missense variant	T/C	snv			1
rs1057516161	FOXL2 ; FOXL2NB	1.000	0.200	3	138946146	frameshift variant	-/G	delins			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
rs1057516168	FOXL2 ; FOXL2NB	1.000	0.200	3	138946079	missense variant	T/C	snv			1
rs1057516172	FOXL2 ; FOXL2NB	1.000	0.200	3	138946028	frameshift variant	GCAGCCGCAGCTGCTGCAGCCG/-	del			1
rs1060499717	FOXL2 ; FOXL2NB	1.000	0.200	3	138946233	stop gained	T/A	snv			1