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
rs1421405659	MYBPC1	0.851	0.360	12	101642529	missense variant	T/C;G	snv			13
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1057518879	PLOD1	0.776	0.280	1	11965571	stop gained	G/A	snv			19
rs1554777480	STXBP1			9	127666235	missense variant	C/G	snv			2
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13
rs753611141	PMPCA	0.827	0.280	9	136418847	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		14
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
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
rs869312704	TBR1	0.882	0.160	2	161423752	frameshift variant	-/GGCTGCA	delins			10
rs1553511216	TBR1	1.000	0.040	2	161423815	frameshift variant	-/GCCCGCAGTC	delins			2
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs1553511226	TBR1	1.000	0.040	2	161423830	frameshift variant	GC/-	delins			2
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs730882243	KCTD3	1.000	0.120	1	215602099	frameshift variant	CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/-	del			3
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs1057518928	SOX5	1.000	0.040	12	23665471	missense variant	G/A	snv			3
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34