DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Seizures

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
rs1114167298	GRM7	0.882	0.120	3	6861849	missense variant	T/C	snv		7.0E-06	5
rs1114167300	GRM7	0.925	0.040	3	7578878	missense variant	C/T	snv			6
rs1114167301	GRM7	0.925	0.040	3	7578930	missense variant	C/A;T	snv	4.0E-06		6
rs1560162116	ALG3	0.882	0.080	3	184242930	missense variant	T/C	snv			5
rs1560164682	ALG3	0.882	0.080	3	184245709	splice region variant	T/C	snv			5
rs1553920383	PPP3CA	0.925		4	101032350	frameshift variant	TC/-	delins			3
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
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
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1561273261	DIMT1 ; KIF2A	0.790	0.160	5	62361307	missense variant	G/A	snv			17
rs587782991	PURA	0.882	0.080	5	140114991	inframe deletion	TCT/-	delins			6
rs587782993	PURA	0.882	0.080	5	140114737	stop gained	C/T	snv			6
rs587782994	PURA	0.882	0.080	5	140114470	missense variant	A/G	snv			6
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs587782996	PURA	0.925	0.080	5	140114544	stop gained	C/G;T	snv	9.0E-06		5
rs587782997	PURA	0.925	0.080	5	140114964	stop gained	C/G	snv			5
rs587782999	PURA	0.882	0.080	5	140114446	missense variant	G/A;C	snv			6
rs587783000	PURA	0.925	0.080	5	140114444	inframe deletion	TCG/-	del			5
rs587783001	PURA	0.882	0.080	5	140114777	missense variant	G/C	snv			6
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64