DisGeNET - a database of gene-disease associations

List of associated variants

Noonan Syndrome, C0028326

Source: CLINVAR ×

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
rs777243508	LZTR1	0.925	0.160	22	20993977	stop gained	G/A	snv	1.4E-04	1.8E-04	1
rs376607329	PTPN11	0.851	0.200	12	112472981	missense variant	G/A;T	snv	3.2E-05	3.5E-05	4
rs267606920	NRAS	0.882	0.160	1	114713911	missense variant	C/T	snv		7.0E-06	2
rs397507525	PTPN11	0.925	0.160	12	112472968	missense variant	C/T	snv		7.0E-06	1
rs869025196	RIT1	1.000	0.160	1	155904489	missense variant	G/A	snv		7.0E-06	1
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	14
rs397507541	PTPN11	0.827	0.160	12	112489068	missense variant	C/T	snv	4.0E-06	7.0E-06	4
rs727503381	PTPN11	1.000	0.160	12	112454636	missense variant	A/T	snv		7.0E-06	1
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	12
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs397507504	PTPN11	0.925	0.160	12	112450346	missense variant	A/G	snv		7.0E-06	2
rs397507529	PTPN11	0.851	0.160	12	112473031	missense variant	A/G	snv		7.0E-06	4
rs1398859175	PTPN11	1.000	0.160	12	112477882	missense variant	A/G	snv		7.0E-06	1
rs869025189	RIT1	0.925	0.160	1	155910658	missense variant	C/G	snv		7.0E-06	2
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			30
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			26
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			16
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			16