DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: SPAST ×

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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
rs143003434	SPAST	1.000	0.080	2	32098840	missense variant	G/A	snv	3.2E-05	3.5E-05	7
rs1060502227	SPAST	0.851	0.120	2	32136593	missense variant	C/G;T	snv			6
rs121908513	SPAST	0.807	0.280	2	32116145	missense variant	T/A	snv			6
rs878854991	SPAST	0.882	0.080	2	32141906	missense variant	G/A	snv			5
rs1060499939	SPAST	0.882	0.120	2	32137172	missense variant	G/C;T	snv			4
rs121908515	SPAST	0.882	0.280	2	32063962	stop gained	C/A;T	snv	4.1E-06; 4.6E-03		3
rs121908517	SPAST	0.925	0.240	2	32063965	missense variant	C/A	snv	3.9E-04	6.2E-04	3
rs1553315329	SPAST			2	32116153	stop gained	C/A;T	snv			3
rs797044850	SPAST	1.000	0.080	2	32127017	missense variant	A/G	snv			3
rs121908510	SPAST	0.925	0.240	2	32136898	missense variant	G/A	snv			2
rs121908511	SPAST	1.000	0.080	2	32141905	missense variant	C/T	snv			2
rs121908514	SPAST	0.925	0.080	2	32127006	missense variant	A/G	snv			2
rs1553314978	SPAST	0.925	0.120	2	32114826	splice donor variant	G/A;T	snv			2
rs1553316816	SPAST	0.925	0.080	2	32126982	missense variant	T/A;G	snv			2
rs1553317028	SPAST	1.000		2	32128440	inframe deletion	CTT/-	delins			2
rs587777757	SPAST	0.925	0.080	2	32128450	missense variant	A/G	snv			2
rs1057518873	SPAST			2	32144990	missense variant	C/G;T	snv			1
rs1057518880	SPAST	1.000	0.080	2	32126966	frameshift variant	G/-	del			1
rs1057519181	SPAST	1.000	0.080	2	32116180	missense variant	G/A	snv			1
rs1060499670	SPAST	1.000	0.080	2	32126960	missense variant	C/T	snv			1
rs1060502226	SPAST	1.000	0.080	2	32127023	splice donor variant	G/A	snv			1
rs1060502229	SPAST	1.000	0.080	2	32064241	frameshift variant	A/-	del			1
rs1060502230	SPAST	1.000	0.080	2	32064221	frameshift variant	CC/GGT	delins			1
rs1064793273	SPAST	1.000	0.080	2	32128459	missense variant	G/A	snv			1
rs1064793976	SPAST	1.000	0.080	2	32154373	splice acceptor variant	G/A;C	snv			1