DisGeNET - a database of gene-disease associations

List of associated variants

Noonan Syndrome 1, C4551602

Source: ALL

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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
rs267606990	RPL6 ; PTPN11	0.851	0.240	12	112419116	missense variant	C/T	snv			4
rs397507501	PTPN11	0.882	0.160	12	112446385	missense variant	A/G	snv			5
rs397507504	PTPN11	0.925	0.160	12	112450346	missense variant	A/G	snv		7.0E-06	2
rs397507505	PTPN11	0.827	0.240	12	112450352	missense variant	A/C;G;T	snv			5
rs397507506	PTPN11	0.807	0.240	12	112450354	missense variant	C/A;G	snv			6
rs886043790	PTPN11	1.000	0.160	12	112450355	missense variant	A/G	snv	4.0E-06	7.0E-06	1
rs80338836	PTPN11	1.000	0.160	12	112450357	inframe deletion	GTG/-	delins			1
rs397507509	PTPN11	0.807	0.240	12	112450359	missense variant	G/C;T	snv			9
rs869025574	PTPN11	1.000	0.160	12	112450360	inframe deletion	GAT/-	delins			1
rs397507510	PTPN11	0.776	0.280	12	112450361	missense variant	G/A;C;T	snv			8
rs121918461	PTPN11	0.827	0.240	12	112450362	missense variant	A/C;G;T	snv			12
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs397507511	PTPN11	0.882	0.240	12	112450385	missense variant	G/A;C	snv			3
rs397516801	PTPN11	0.925	0.160	12	112450389	missense variant	A/G	snv			2
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			19
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			13
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs397507514	PTPN11	0.790	0.240	12	112450408	missense variant	G/C;T	snv			10
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			14
rs397507517	PTPN11	0.827	0.160	12	112450497	missense variant	A/C	snv			8
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs397507524	PTPN11	1.000	0.160	12	112472949	inframe insertion	ACA/-;ACAACA	delins			1
rs397507523	PTPN11	0.882	0.160	12	112472954	missense variant	A/G	snv			3