DisGeNET - a database of gene-disease associations

List of shared variants

Neck webbing, C0221217

Disease: Noonan Syndrome

Source: ALL

Results per page

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	47
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
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
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs121918461	PTPN11	0.827	0.240	12	112450362	missense variant	A/C;G;T	snv			12