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
rs758022116	RALGAPB	0.790	0.280	20	38535152	missense variant	G/T	snv	4.0E-06		13
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs776720232	PGAP3	0.827	0.240	17	39673099	missense variant	T/C;G	snv	4.2E-06		10
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs869312704	TBR1	0.882	0.160	2	161423752	frameshift variant	-/GGCTGCA	delins			10
rs869025222	RARB	0.827	0.240	3	25580574	missense variant	T/C	snv			9
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
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
rs375761808	ARID1A	0.925	0.160	1	26775673	missense variant	A/G;T	snv	4.0E-06		6
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
rs869025221	RARB	0.925	0.080	3	25593603	missense variant	G/C	snv			5
rs724159991	TMEM186 ; ABAT	1.000	0.080	16	8781360	missense variant	T/C	snv			5
rs756210458	ADSL	0.925	0.200	22	40354266	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		4
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
rs1057518928	SOX5	1.000	0.040	12	23665471	missense variant	G/A	snv			3
rs1554777480	STXBP1			9	127666235	missense variant	C/G	snv			2
rs1553510217	TBR1	1.000	0.040	2	161417083	missense variant	A/T	snv			2
rs1553510301	TBR1	0.925	0.040	2	161417794	missense variant	T/C	snv			2
rs1553511216	TBR1	1.000	0.040	2	161423815	frameshift variant	-/GCCCGCAGTC	delins			2
rs1553511226	TBR1	1.000	0.040	2	161423830	frameshift variant	GC/-	delins			2