DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Blepharoptosis

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
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
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
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			18
rs727503109	KRAS	0.752	0.320	12	25245277	missense variant	T/C	snv			17
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15
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