DisGeNET - a database of gene-disease associations

List of associated variants

Spastic paraplegia 8, autosomal dominant, C1863704

Source: ALL

Results per page

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
rs1462319941	WASHC5	0.925	0.200	8	125081668	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs1563627853	WASHC5	0.925	0.200	8	125067721	splice acceptor variant	T/C	snv			2
rs1563633906	WASHC5	0.925	0.200	8	125078744	stop gained	-/T	delins			2
rs397515564	WASHC5	0.925	0.120	8	125055601	missense variant	C/G;T	snv			2
rs754463353	WASHC5	0.925	0.200	8	125078767	stop gained	G/A	snv	8.0E-06		2
rs765926045	WASHC5	0.925	0.200	8	125038889	frameshift variant	GT/-	delins	8.0E-06	7.0E-06	2
rs80338865	WASHC5	0.925	0.240	8	125061192	missense variant	T/C	snv			2
rs80338867	WASHC5	0.925	0.200	8	125056817	missense variant	C/A	snv			2
rs1554593899	WASHC5	1.000	0.120	8	125057659	missense variant	G/A	snv			1
rs1554593901	WASHC5	1.000	0.120	8	125057660	missense variant	A/G	snv			1
rs755285830	WASHC5	1.000	0.120	8	125078772	missense variant	A/G;T	snv	4.0E-06		1
rs80338866	WASHC5	1.000	0.120	8	125057574	missense variant	C/A;G	snv			1