DisGeNET - a database of gene-disease associations

List of associated variants

Gross motor development delay, C1837658

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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs756421370	MECR	0.807	0.120	1	29200513	splice donor variant	-/A	delins	1.4E-04	6.3E-05	8
rs543860009	TTN-AS1 ; TTN	0.742	0.320	2	178589003	stop gained	G/A;T	snv			33
rs878854378	TTN ; TTN-AS1	0.742	0.320	2	178533657	inframe deletion	GTT/-	delins			33
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs886041287	TTN ; TTN-AS1	0.882	0.160	2	178535594	frameshift variant	-/GT	delins			8
rs1057518950	TPO	0.851	0.280	2	1484815	missense variant	C/T	snv			7
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs312262690	ANTXR2	0.752	0.320	4	79984831	frameshift variant	-/G;GG	delins	1.7E-05		28
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv			20
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
rs1554385305	CAMK2B	0.925	0.040	7	44241784	splice acceptor variant	C/T	snv			7
rs751889864	LOC107987115 ; MUSK	0.925	0.120	9	110785664	missense variant	T/A;C	snv	4.0E-06; 1.6E-05		5
rs1057518966	MUSK	1.000	0.040	9	110800743	missense variant	G/A	snv			4
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25