DisGeNET - a database of gene-disease associations

List of associated variants

Severe global developmental delay, C1837397

Source: CLINVAR ×

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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
rs121434578	ABAT	1.000	0.080	16	8768248	missense variant	G/A	snv			5
rs724159990	ABAT	1.000	0.080	16	8768220	missense variant	C/T	snv			5
rs724159992	ABAT	1.000	0.080	16	8750498	missense variant	G/A	snv		1.4E-05	5
rs374259530	ADSL	0.925	0.200	22	40350018	missense variant	T/C	snv	3.6E-05	9.1E-05	5
rs756210458	ADSL	0.925	0.200	22	40354266	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		4
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs375761808	ARID1A	0.925	0.160	1	26775673	missense variant	A/G;T	snv	4.0E-06		6
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1555652383	BPTF	0.807	0.160	17	67912720	frameshift variant	TG/-	delins			13
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs730882243	KCTD3	1.000	0.120	1	215602099	frameshift variant	CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/-	del			3
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1421405659	MYBPC1	0.851	0.360	12	101642529	missense variant	T/C;G	snv			13
rs74315511	NCAPH2 ; SCO2	0.925	0.240	22	50523994	missense variant	C/T	snv	8.0E-05	1.1E-04	4
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15