DisGeNET - a database of gene-disease associations

List of associated variants

Paraparesis, Spastic, C0037771

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
rs672601371	KIF1A	0.925	0.080	2	240783791	missense variant	A/T	snv			4
rs1057518874	SPG11			15	44598738	missense variant	C/A	snv			4
rs1191863771	APP	0.925	0.080	21	25911833	missense variant	A/G	snv	4.0E-06		3
rs1085307110	KY ; CEP63 ; EPHB1	0.925	0.120	3	134650909	frameshift variant	-/ATGTCGATAGATACAGCACATGTCGATA	ins			3
rs374263073	LAMC2	0.925	0.120	1	183222116	missense variant	G/A;T	snv	1.2E-05		3
rs63750588	PSEN1	0.925	0.080	14	73173687	missense variant	T/A	snv			3
rs771744744	SMUG1	0.925	0.120	12	54182241	missense variant	C/T	snv	8.0E-06		3
rs63750524	PSEN1	1.000	0.080	14	73198095	missense variant	A/C	snv			2
rs121918263	REEP1	1.000	0.080	2	86252037	stop gained	G/A	snv			2
rs121908511	SPAST	1.000	0.080	2	32141905	missense variant	C/T	snv			2
rs1211175128	REEP1			2	86232648	missense variant	G/A	snv			1
rs1057518873	SPAST			2	32144990	missense variant	C/G;T	snv			1