DisGeNET - a database of gene-disease associations

List of associated variants

Developmental Disabilities, C0008073

Source: ALL

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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
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			32
rs2435357	RET	0.790	0.240	10	43086608	intron variant	T/C	snv		0.79	8
rs118203918	CILK1	0.882	0.160	6	53016099	missense variant	C/T	snv	4.0E-06		6
rs121908332	KCNK9	0.882	0.240	8	139618677	missense variant	C/G;T	snv			5
rs869320686	LZTR1	0.882		22	20990476	missense variant	G/A	snv			5
rs121912679	ACVR1	1.000	0.040	2	157761077	missense variant	C/T	snv			4
rs267606920	NRAS	0.882	0.160	1	114713911	missense variant	C/T	snv		7.0E-06	4
rs587777178	LZTR1	0.925	0.080	22	20995865	missense variant	C/T	snv	4.4E-05	6.3E-05	3
rs150419186	LZTR1	1.000	0.160	22	20989659	stop gained	C/A;G;T	snv	4.0E-06; 1.2E-05; 7.2E-05		2
rs202198533	MYH2 ; MYHAS			17	10533547	missense variant	C/T	snv	1.6E-04	1.0E-04	2
rs187438258	MYHAS ; MYH2			17	10525806	missense variant	G/A	snv	8.6E-04	1.9E-04	2
rs770992098	NEB	1.000	0.080	2	151724954	missense variant	T/C	snv	8.0E-06	7.0E-06	2
rs869025573	NRAS	1.000	0.160	1	114716090	missense variant	A/T	snv			2
rs267606956	PNKP	1.000		19	49862424	stop gained	C/A;T	snv			2
rs1297485103	DENR			12	122762190	missense variant	G/A	snv			1
rs138615487	LZTR1			22	20994245	missense variant	G/A;C	snv	2.6E-05	2.8E-05	1
rs765416902	LZTR1			22	20994677	missense variant	G/A	snv		1.4E-05	1
rs772206552	SETD1A			16	30979961	missense variant	G/A	snv	9.0E-05	7.7E-05	1