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
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
rs1266102026	REEP1	1.000	0.080	2	86282217	missense variant	C/G;T	snv	4.0E-06		1
rs587777757	SPAST	0.925	0.080	2	32128450	missense variant	A/G	snv			1
rs562890289	SPG7	1.000	0.080	16	89544770	stop gained	C/T	snv	1.2E-05	3.5E-05	1
rs912983346	SPG7	1.000	0.080	16	89513037	missense variant	G/C	snv	4.4E-06	7.0E-06	1
rs1555394376	ZFYVE26	1.000	0.080	14	67762275	frameshift variant	-/A	delins			1