DisGeNET - a database of gene-disease associations

List of associated variants

Gross motor development delay, C1837658

Source: INFERRED ×

Results per page

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
rs1048764460	COG4	1.000	0.040	16	70482809	stop gained	C/A	snv		5.6E-05	1
rs267606740	COG4	0.925	0.040	16	70481397	missense variant	G/A	snv	2.4E-05	1.4E-05	2
rs935855792	ETHE1	0.925	0.240	19	43511436	splice donor variant	C/A;G;T	snv	8.0E-06		3
rs1057518966	MUSK	1.000	0.040	9	110800743	missense variant	G/A	snv			4
rs1057518940	RYR1	0.925	0.040	19	38499718	missense variant	G/A	snv			4
rs1554122123	CAMK2A	0.925	0.040	5	150251979	splice donor variant	-/A	delins			5
rs1057518961	DYNC1H1	0.925	0.040	14	102012450	missense variant	C/T	snv			5
rs1057521721	GRIA3	0.851	0.200	X	123428020	missense variant	G/A	snv			5
rs751889864	LOC107987115 ; MUSK	0.925	0.120	9	110785664	missense variant	T/A;C	snv	4.0E-06; 1.6E-05		5
rs267608463	MECP2	0.925	0.120	X	154032206	splice donor variant	C/A;T	snv			5
rs763944786	RYR1	0.925	0.080	19	38469119	missense variant	C/T	snv	1.2E-05	1.4E-05	5
rs1554122129	CAMK2A	0.882	0.040	5	150252032	missense variant	T/A	snv			6
rs1057518963	OPHN1	0.851	0.200	X	68210239	missense variant	A/G	snv			6
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
rs80358263	NPC2	0.827	0.280	14	74486378	stop gained	G/T	snv	8.4E-06		7
rs1057518950	TPO	0.851	0.280	2	1484815	missense variant	C/T	snv			7
rs756421370	MECR	0.807	0.120	1	29200513	splice donor variant	-/A	delins	1.4E-04	6.3E-05	8
rs1554893835	PTEN	0.827	0.240	10	87894110	splice donor variant	G/C;T	snv			8
rs886041287	TTN ; TTN-AS1	0.882	0.160	2	178535594	frameshift variant	-/GT	delins			8
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
rs61752992	MECP2	0.807	0.120	X	154030621	splice acceptor variant	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-	delins			9