DisGeNET - a database of gene-disease associations

List of associated variants

GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1, C4551964

Source: ALL

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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
rs121918274	ROBO3	0.882	0.200	11	124870650	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		3
rs121918270	ROBO3	1.000	0.200	11	124871062	missense variant	G/A	snv			1
rs121918271	ROBO3	1.000	0.200	11	124875145	missense variant	G/A;C	snv	1.1E-04		1
rs121918272	ROBO3	1.000	0.200	11	124875150	missense variant	T/A;C	snv	4.0E-06		1
rs121918273	ROBO3	1.000	0.200	11	124872919	stop gained	G/T	snv			1
rs121918275	ROBO3	1.000	0.200	11	124865591	missense variant	T/C	snv			1
rs121918276	ROBO3	1.000	0.200	11	124868837	missense variant	A/C	snv			1
rs121918278	ROBO3	1.000	0.200	11	124875581	stop gained	C/T	snv			1
rs1565312182	ROBO3	1.000	0.200	11	124874171	frameshift variant	TT/-	del			1
rs1565312616	ROBO3	1.000	0.200	11	124874910	splice donor variant	G/A	snv			1
rs775068146	ROBO3	1.000	0.200	11	124874122	frameshift variant	CA/-	delins		7.0E-06	1