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
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs1553511216	TBR1	1.000	0.040	2	161423815	frameshift variant	-/GCCCGCAGTC	delins			2
rs869312704	TBR1	0.882	0.160	2	161423752	frameshift variant	-/GGCTGCA	delins			10
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs375761808	ARID1A	0.925	0.160	1	26775673	missense variant	A/G;T	snv	4.0E-06		6
rs1553510217	TBR1	1.000	0.040	2	161417083	missense variant	A/T	snv			2
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1554777480	STXBP1			9	127666235	missense variant	C/G	snv			2
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs756210458	ADSL	0.925	0.200	22	40354266	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		4
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs372392424	PIGG	0.882	0.240	4	523849	missense variant	C/T	snv	6.7E-05	7.7E-05	8
rs1057518887	SEPSECS	0.925	0.160	4	25156851	splice region variant	C/T	snv			7
rs724159990	ABAT	1.000	0.080	16	8768220	missense variant	C/T	snv			5
rs74315511	NCAPH2 ; SCO2	0.925	0.240	22	50523994	missense variant	C/T	snv	8.0E-05	1.1E-04	4
rs730882243	KCTD3	1.000	0.120	1	215602099	frameshift variant	CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/-	del			3
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17