DisGeNET - a database of gene-disease associations

List of associated variants

Spastic paraplegia 10, autosomal dominant, C1858712

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
rs121434444	KIF5A	0.882	0.160	12	57569648	missense variant	C/T	snv	2.8E-05	7.0E-06	4
rs121434441	KIF5A	0.882	0.240	12	57569015	missense variant	A/G	snv			3
rs121434443	KIF5A	0.925	0.120	12	57569263	missense variant	A/G	snv			2
rs387907285	KIF5A	0.925	0.120	12	57568999	missense variant	G/A	snv			2
rs387907287	KIF5A	0.925	0.120	12	57567515	missense variant	G/A	snv			2
rs387907288	KIF5A	0.925	0.080	12	57569275	missense variant	G/A	snv			2
rs1131692233	KIF5A	1.000	0.080	12	57569047	missense variant	T/C	snv			1
rs121434442	KIF5A	1.000	0.080	12	57569274	missense variant	C/T	snv			1
rs387907289	KIF5A	1.000	0.080	12	57567608	missense variant	G/A	snv			1
rs690016545	KIF5A	1.000	0.080	12	57567598	missense variant	G/A	snv			1