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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs375761808	ARID1A	0.925	0.160	1	26775673	missense variant	A/G;T	snv	4.0E-06		6
rs730882243	KCTD3	1.000	0.120	1	215602099	frameshift variant	CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/-	del			3
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
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
rs869025222	RARB	0.827	0.240	3	25580574	missense variant	T/C	snv			9
rs869025221	RARB	0.925	0.080	3	25593603	missense variant	G/C	snv			5
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
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
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15