DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Global developmental delay

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
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			13
rs121918470	PTPN11	0.790	0.160	12	112489105	missense variant	A/C;G	snv	4.0E-06		10
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			9
rs121918458	PTPN11	0.807	0.320	12	112489080	missense variant	T/A;G	snv			8
rs397517150	SOS1	0.827	0.160	2	39023118	missense variant	A/C;G	snv			7
rs180177038	BRAF	0.851	0.200	7	140778007	missense variant	C/G;T	snv			4