DisGeNET - a database of gene-disease associations

List of shared variants

Seizures, C0036572

Disease: Muscle Spasticity

Source: INFERRED ×

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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
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
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs886041091	NTRK2	0.807	0.120	9	84751990	missense variant	A/G	snv			18
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs1553546045	PTH2R	0.925	0.200	2	208442425	missense variant	C/T	snv			5