DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome 1, C4551602

Disease: NOONAN SYNDROME 3

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
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
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
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			16
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			15
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		15
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			12
rs121918470	PTPN11	0.790	0.160	12	112489105	missense variant	A/C;G	snv	4.0E-06		10
rs397507506	PTPN11	0.807	0.240	12	112450354	missense variant	C/A;G	snv			6
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			6
rs397507510	PTPN11	0.776	0.280	12	112450361	missense variant	G/A;C;T	snv			5