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
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06		5
rs121918358	SPG7	0.882	0.160	16	89510539	stop gained	T/A	snv	4.2E-04	1.8E-04	5
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs72547551	SPG7	0.882	0.160	16	89550545	missense variant	C/T	snv	3.6E-05	1.5E-04	5
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		6
rs587777585	VARS2	0.882		6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs80338700	PMM2	0.851	0.200	16	8806398	missense variant	C/G;T	snv	4.0E-06; 2.4E-05		7
rs748309520	SPG7	0.882	0.160	16	89531903	splice acceptor variant	G/A	snv	1.6E-05	7.0E-06	5
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs752989523	SPG7	0.882	0.160	16	89553853	stop gained	G/A;C	snv	8.0E-06		5
rs138490803	COQ7	0.925	0.120	16	19074000	missense variant	T/C	snv	8.0E-06	7.0E-06	3
rs587784347	PLA2G6	0.742	0.280	22	38113561	missense variant	G/A	snv	8.0E-06		38
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs776679653	ISCA1	0.827	0.200	9	86266174	missense variant	C/T	snv	4.2E-06		11
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36