DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome 1, C4551602

Disease: Metachondromatosis

Source: INFERRED ×

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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
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	18
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
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		16
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			15
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	14
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			12
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			11
rs397507514	PTPN11	0.790	0.240	12	112450408	missense variant	G/C;T	snv			9
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			8
rs397507506	PTPN11	0.807	0.240	12	112450354	missense variant	C/A;G	snv			6
rs397507505	PTPN11	0.827	0.240	12	112450352	missense variant	A/C;G;T	snv			5
rs376607329	PTPN11	0.851	0.200	12	112472981	missense variant	G/A;T	snv	3.2E-05	3.5E-05	4
rs267606990	RPL6 ; PTPN11	0.851	0.240	12	112419116	missense variant	C/T	snv			3