DisGeNET - a database of gene-disease associations

List of associated variants

Spastic Paraplegia, Hereditary, C0037773

Source: CURATED ×

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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
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	36
rs768823392	SPG7	0.827	0.120	16	89546657	coding sequence variant	GGCGGGAGA/-	delins	2.6E-04	4.2E-04	10
rs312262720	SPG11	0.882	0.120	15	44657230	frameshift variant	AT/-	del		4.9E-05	5
rs786200949	KIF1A	0.851	0.120	2	240788208	missense variant	G/A	snv			4
rs200133991	C19orf12	0.925	0.080	19	29708290	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs116171274	CYP7B1	0.882	0.120	8	64596707	missense variant	G/A;T	snv	5.2E-04; 8.0E-06		3
rs121908613	CYP7B1	0.882	0.120	8	64615716	stop gained	A/G;T	snv	7.6E-05		3
rs1085307110	KY ; CEP63 ; EPHB1	0.925	0.120	3	134650909	frameshift variant	-/ATGTCGATAGATACAGCACATGTCGATA	ins			3
rs104894490	NIPA1	0.827	0.240	15	22812252	missense variant	G/A;C	snv			3
rs864622269	ATL1	0.851	0.240	14	50628394	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs398123015	CREB3 ; GBA2	0.925	0.080	9	35737335	missense variant	C/T	snv			2
rs398123012	GBA2	0.925	0.080	9	35738811	missense variant	G/A	snv	1.6E-05	2.8E-05	2
rs1555177629	KIF5A	0.925	0.120	12	57567514	missense variant	C/T	snv			2
rs387907288	KIF5A	0.925	0.080	12	57569275	missense variant	G/A	snv			2
rs1553316816	SPAST	0.925	0.080	2	32126982	missense variant	T/A;G	snv			2
rs878854991	SPAST	0.882	0.080	2	32141906	missense variant	G/A	snv			2
rs750663981	SPG11	0.925	0.080	15	44598811	frameshift variant	-/G	delins	2.0E-05	6.3E-05	2
rs760818649	SPG7	0.925	0.080	16	89531963	frameshift variant	C/-;CC	delins			2
rs768136171	SPG7	0.925	0.080	16	89529489	frameshift variant	TG/-	delins	8.0E-06	2.1E-05	2
rs587777132	ALS2	0.882	0.120	2	201728592	stop gained	G/A;T	snv			1
rs1554524697	CYP7B1	1.000	0.080	8	64615168	frameshift variant	-/A	delins			1
rs367916692	CYP7B1	0.925	0.080	8	64596914	missense variant	G/A	snv	5.2E-05	7.0E-06	1
rs763958615	ERLIN2	1.000	0.080	8	37753994	missense variant	A/G;T	snv	8.0E-06		1
rs66468541	HSPD1	0.925	0.080	2	197497275	missense variant	C/T	snv			1
rs548204329	KIF1A	1.000	0.080	2	240797722	missense variant	G/A;T	snv	4.1E-06		1