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
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4
rs1554904159	BRSK2 ; LOC107984298	0.851	0.160	11	1442607	splice donor variant	G/A	snv			11
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
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
rs1554122129	CAMK2A	0.882	0.040	5	150252032	missense variant	T/A	snv			6
rs1554122123	CAMK2A	0.925	0.040	5	150251979	splice donor variant	-/A	delins			5
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1554386687	CAMK2B	0.882	0.040	7	44242328	missense variant	C/T	snv			12
rs1554402092	CAMK2B	1.000		7	44254555	missense variant	C/T	snv			8
rs1554385305	CAMK2B	0.925	0.040	7	44241784	splice acceptor variant	C/T	snv			7
rs1554434435	CAMK2B	1.000		7	44284206	stop gained	G/A	snv			4
rs397517077	CBL	0.851	0.320	11	119278162	splice acceptor variant	AAAG/-	del			10
rs267606706	CBL	0.807	0.240	11	119278181	missense variant	T/A;C	snv	8.0E-06		9
rs587783405	CDKL5	0.851	0.160	X	18588021	stop gained	C/T	snv			9
rs869312877	CHD2	0.925	0.160	15	92997299	frameshift variant	-/G	delins			3
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs752738546	DDX3X	1.000		X	41343802	stop gained	G/A;T	snv	5.6E-06		4