DisGeNET - a database of gene-disease associations

List of associated variants

Noonan Syndrome, C0028326

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
rs267607080	SOS1	0.925	0.160	2	39023134	missense variant	A/G	snv			2
rs397507504	PTPN11	0.925	0.160	12	112450346	missense variant	A/G	snv		7.0E-06	2
rs397507512	PTPN11	0.925	0.160	12	112450391	missense variant	T/C;G	snv			2
rs397507518	PTPN11	0.925	0.160	12	112450508	missense variant	G/A	snv			2
rs397516801	PTPN11	0.925	0.160	12	112450389	missense variant	A/G	snv			2
rs397516810	PTPN11	0.925	0.160	12	112477652	missense variant	T/G	snv			2
rs397516813	RAF1	0.925	0.160	3	12599717	missense variant	C/G	snv			2
rs397516828	RAF1	0.925	0.160	3	12604188	missense variant	G/A;C	snv			2
rs397517172	SOS1	0.925	0.160	2	39056704	missense variant	T/C	snv			2
rs727503380	PTPN11	0.925	0.160	12	112450386	missense variant	A/T	snv			2
rs869025189	RIT1	0.925	0.160	1	155910658	missense variant	C/G	snv		7.0E-06	2
rs869025193	RIT1	0.925	0.160	1	155904498	missense variant	T/C	snv			2
rs869025197	RIT1	0.925	0.160	1	155904475	missense variant	A/G	snv			2
rs1398859175	PTPN11	1.000	0.160	12	112477882	missense variant	A/G	snv		7.0E-06	1
rs1553353452	SOS1	1.000	0.160	2	39007033	missense variant	C/T	snv			1
rs3730271	RAF1	1.000	0.160	3	12604195	missense variant	A/C;G;T	snv			1
rs397507477	BRAF	1.000	0.160	7	140777995	missense variant	G/A	snv			1
rs397507503	PTPN11	1.000	0.160	12	112450335	missense variant	C/T	snv			1
rs397507507	PTPN11	1.000	0.160	12	112450358	missense variant	G/A;C;T	snv			1
rs397507525	PTPN11	0.925	0.160	12	112472968	missense variant	C/T	snv		7.0E-06	1
rs397507527	PTPN11	1.000	0.160	12	112472989	missense variant	G/A;T	snv	4.0E-06		1
rs397507530	PTPN11	1.000	0.160	12	112473033	missense variant	C/G	snv			1
rs397507543	PTPN11	0.925	0.160	12	112489078	missense variant	G/A	snv			1
rs397507544	PTPN11	1.000	0.160	12	112489081	missense variant	C/T	snv			1
rs397507548	PTPN11	0.851	0.160	12	112489093	missense variant	A/C	snv			1