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
rs104894490	NIPA1	0.827	0.240	15	22812252	missense variant	G/A;C	snv			3
rs1085307110	KY ; CEP63 ; EPHB1	0.925	0.120	3	134650909	frameshift variant	-/ATGTCGATAGATACAGCACATGTCGATA	ins			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
rs1266102026	REEP1	1.000	0.080	2	86282217	missense variant	C/G;T	snv	4.0E-06		1
rs1553316816	SPAST	0.925	0.080	2	32126982	missense variant	T/A;G	snv			2
rs1554524697	CYP7B1	1.000	0.080	8	64615168	frameshift variant	-/A	delins			1
rs1555177629	KIF5A	0.925	0.120	12	57567514	missense variant	C/T	snv			2
rs1555177824	KIF5A	1.000	0.080	12	57569269	missense variant	C/T	snv			1
rs1555177831	KIF5A	1.000	0.080	12	57569304	missense variant	G/C	snv			1
rs1555394376	ZFYVE26	1.000	0.080	14	67762275	frameshift variant	-/A	delins			1
rs200133991	C19orf12	0.925	0.080	19	29708290	missense variant	C/T	snv	1.2E-05	2.1E-05	3
rs312262720	SPG11	0.882	0.120	15	44657230	frameshift variant	AT/-	del		4.9E-05	5
rs367916692	CYP7B1	0.925	0.080	8	64596914	missense variant	G/A	snv	5.2E-05	7.0E-06	1
rs387907288	KIF5A	0.925	0.080	12	57569275	missense variant	G/A	snv			2
rs398123012	GBA2	0.925	0.080	9	35738811	missense variant	G/A	snv	1.6E-05	2.8E-05	2
rs398123015	CREB3 ; GBA2	0.925	0.080	9	35737335	missense variant	C/T	snv			2
rs548204329	KIF1A	1.000	0.080	2	240797722	missense variant	G/A;T	snv	4.1E-06		1
rs562890289	SPG7	1.000	0.080	16	89544770	stop gained	C/T	snv	1.2E-05	3.5E-05	1
rs587777132	ALS2	0.882	0.120	2	201728592	stop gained	G/A;T	snv			1
rs587777757	SPAST	0.925	0.080	2	32128450	missense variant	A/G	snv			1
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	36
rs66468541	HSPD1	0.925	0.080	2	197497275	missense variant	C/T	snv			1
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