DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Autosomal Dominant Spastic Paraplegia, C0751602

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
rs121908513	SPAST	0.807	0.280	2	32116145	missense variant	T/A	snv			6
rs119476046	ATL1	0.827	0.240	14	50613343	missense variant	C/T	snv			5
rs104894490	NIPA1	0.827	0.240	15	22812252	missense variant	G/A;C	snv			5
rs200154785	APP	0.925	0.240	21	25997362	missense variant	T/A	snv			2
rs121908514	SPAST	0.925	0.080	2	32127006	missense variant	A/G	snv			2
rs397515564	WASHC5	0.925	0.120	8	125055601	missense variant	C/G;T	snv			2
rs778023258	SPAST	1.000	0.080	2	32154386	stop gained	C/G;T	snv	4.0E-06		1