DisGeNET - a database of gene-disease associations

List of associated variants

SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, C1846564

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
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs768823392	SPG7	0.827	0.120	16	89546657	coding sequence variant	GGCGGGAGA/-	delins	2.6E-04	4.2E-04	10
rs121918358	SPG7	0.882	0.160	16	89510539	stop gained	T/A	snv	4.2E-04	1.8E-04	5
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06		5
rs72547551	SPG7	0.882	0.160	16	89550545	missense variant	C/T	snv	3.6E-05	1.5E-04	5
rs748309520	SPG7	0.882	0.160	16	89531903	splice acceptor variant	G/A	snv	1.6E-05	7.0E-06	5
rs752989523	SPG7	0.882	0.160	16	89553853	stop gained	G/A;C	snv	8.0E-06		5
rs879253797	SPG7	0.882	0.160	16	89556954	missense variant	C/T	snv		1.4E-05	5
rs770661102	SPG7	0.882	0.120	16	89556924	missense variant	A/C;G	snv	4.4E-05		3
rs879253798	SPG7	1.000	0.080	16	89524099	frameshift variant	TC/-	delins			3
rs1020764190	AFG3L2	0.925	0.120	18	12351330	missense variant	G/A	snv			2
rs1162419578	APP	0.925	0.160	21	25975126	missense variant	G/A	snv	4.0E-06		2
rs369227537	SPG7	1.000	0.080	16	89550502	stop gained	A/T	snv	1.4E-04	9.8E-05	2
rs760818649	SPG7	0.925	0.080	16	89531963	frameshift variant	C/-;CC	delins			2
rs768136171	SPG7	0.925	0.080	16	89529489	frameshift variant	TG/-	delins	8.0E-06	2.1E-05	2
rs797046003	SPG7	1.000	0.080	16	89529575	splice donor variant	-/T	delins			2
rs1060503425	SPG7	1.000	0.080	16	89531961	frameshift variant	GG/AGC	delins			1
rs121918357	SPG7	1.000	0.080	16	89553932	missense variant	G/A;C	snv			1
rs1229749476	SPG7	1.000	0.080	16	89548001	splice acceptor variant	A/G	snv			1
rs1412575396	SPG7	1.000	0.080	16	89529580	splice donor variant	G/C;T	snv		7.0E-06	1
rs1567934754	SPG7	1.000	0.080	16	89554484	splice acceptor variant	A/G	snv			1
rs267607085	SPG7	1.000	0.080	16	89550579	missense variant	G/C	snv			1
rs368373840	SPG7	1.000	0.080	16	89531949	missense variant	G/A;C	snv	3.6E-05	3.5E-05	1
rs372981030	SPG7	1.000	0.080	16	89550505	stop gained	A/T	snv	1.6E-05	7.0E-06	1