DisGeNET - a database of gene-disease associations

List of shared variants

Downward slant of palpebral fissure, C0423110

Disease: Noonan Syndrome

Source: CLINVAR ×

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
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs397507514	PTPN11	0.790	0.240	12	112450408	missense variant	G/C;T	snv			9
rs397507539	PTPN11	0.851	0.160	12	112489047	missense variant	C/A;G;T	snv	4.0E-06		8