DisGeNET - a database of gene-disease associations

List of associated variants

Pulmonary Stenosis, C1956257

Source: ALL

Results per page

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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs138659167	DHCR7	0.807	0.320	11	71435840	splice acceptor variant	C/A;G	snv	5.6E-05; 3.9E-03		20
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			18
rs1032242817	DHCR7	0.807	0.320	11	71441307	stop gained	C/T	snv	8.0E-06	7.0E-06	17
rs727503109	KRAS	0.752	0.320	12	25245277	missense variant	T/C	snv			17
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs80338701	PMM2	0.776	0.360	16	8811088	stop gained	C/A;T	snv	4.4E-05; 5.4E-06		14
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			14
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			13
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12