DisGeNET - a database of gene-disease associations

List of associated variants

Delayed speech and language development, C0454644

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
rs1554402092	CAMK2B	1.000		7	44254555	missense variant	C/T	snv			8
rs1555928716	RPS6KA3	0.925		X	20167669	stop gained	G/A	snv			7
rs1057518786	SYNGAP1	1.000		6	33441374	splice region variant	G/A	snv			5
rs879255368	ATP1A3			19	41984953	missense variant	C/G;T	snv			5
rs1447313633	ZNF142	1.000		2	218649090	frameshift variant	TT/-	del			4
rs1554121671	SYNGAP1	1.000		6	33440746	frameshift variant	-/AGGA	delins			4
rs1554434435	CAMK2B	1.000		7	44284206	stop gained	G/A	snv			4
rs1559296368	ZNF142	1.000		2	218646330	frameshift variant	C/-	del			4
rs752738546	DDX3X	1.000		X	41343802	stop gained	G/A;T	snv	5.6E-06		4
rs869312708	DYRK1A	1.000		21	37506191	stop gained	C/T	snv			4
rs869312692	DDX3X	1.000		X	41343291	stop gained	C/T	snv			2
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs1554386687	CAMK2B	0.882	0.040	7	44242328	missense variant	C/T	snv			12
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs1554121875	CAMK2A	0.882	0.040	5	150250281	missense variant	T/C	snv			7
rs1554123982	CAMK2A	0.925	0.040	5	150273157	splice acceptor variant	C/-	delins			7
rs1554385305	CAMK2B	0.925	0.040	7	44241784	splice acceptor variant	C/T	snv			7
rs118192212	KCNQ2	0.925	0.040	20	63439610	inframe deletion	AAG/-	delins			6
rs1554122129	CAMK2A	0.882	0.040	5	150252032	missense variant	T/A	snv			6
rs1555889127	KCNB1 ; LOC105372649	1.000	0.040	20	49374625	missense variant	C/T	snv			6
rs761399728	GNB5	0.851	0.040	15	52153947	missense variant	G/A	snv	5.6E-05	7.0E-06	6
rs876661151	LOC105369668 ; GRIN2B	0.925	0.040	12	13608611	missense variant	C/A;T	snv			6