DisGeNET - a database of gene-disease associations

List of associated variants

Muscle Spasticity, C0026838

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
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		6
rs1057516033	KAT6B	0.807	0.400	10	75025250	splice donor variant	G/A	snv			9
rs1057516049	KAT6A	0.851	0.040	8	41933963	frameshift variant	CACT/-	delins			7
rs1057519087	MFSD2A	0.925	0.120	1	39967632	missense variant	C/T	snv		7.0E-06	4
rs1060502227	SPAST	0.851	0.120	2	32136593	missense variant	C/G;T	snv			6
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del		7.0E-06	11
rs121918358	SPG7	0.882	0.160	16	89510539	stop gained	T/A	snv	4.2E-04	1.8E-04	5
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs137852981	ZEB2	0.752	0.480	2	144399104	stop gained	G/A	snv			30
rs138490803	COQ7	0.925	0.120	16	19074000	missense variant	T/C	snv	8.0E-06	7.0E-06	3
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06		5
rs1553546045	PTH2R	0.925	0.200	2	208442425	missense variant	C/T	snv			5
rs1555119899	ATM ; C11orf65	0.925	0.240	11	108326149	missense variant	G/C	snv			7
rs1555454508	SPG11	0.790	0.240	15	44615487	stop gained	GTA/ATC	mnv			18
rs1555471098	CREBBP	0.925	0.120	16	3728852	frameshift variant	GCTGGGTGAGA/-	del			6
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins			18
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27