DisGeNET - a database of gene-disease associations

List of associated variants

Muscle Spasticity, C0026838

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
rs587777585	VARS2	0.882		6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs1057516049	KAT6A	0.851	0.040	8	41933963	frameshift variant	CACT/-	delins			7
rs730882147	MED20	0.851	0.080	6	41909351	missense variant	C/G	snv		7.0E-06	5
rs895293055	MED20	0.851	0.080	6	41909351	frameshift variant	C/-	delins			5
rs879253798	SPG7	1.000	0.080	16	89524099	frameshift variant	TC/-	delins			3
rs886041091	NTRK2	0.807	0.120	9	84751990	missense variant	A/G	snv			18
rs672601369	KIF1A	0.790	0.120	2	240783780	missense variant	C/T	snv			10
rs1060502227	SPAST	0.851	0.120	2	32136593	missense variant	C/G;T	snv			6
rs1555471098	CREBBP	0.925	0.120	16	3728852	frameshift variant	GCTGGGTGAGA/-	del			6
rs1057519087	MFSD2A	0.925	0.120	1	39967632	missense variant	C/T	snv		7.0E-06	4
rs138490803	COQ7	0.925	0.120	16	19074000	missense variant	T/C	snv	8.0E-06	7.0E-06	3
rs864321686	COQ7	0.925	0.120	16	19075775	missense variant	T/A	snv			3
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		6
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
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs776679653	ISCA1	0.827	0.200	9	86266174	missense variant	C/T	snv	4.2E-06		11
rs80338700	PMM2	0.851	0.200	16	8806398	missense variant	C/G;T	snv	4.0E-06; 2.4E-05		7