DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: Short stature

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
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
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
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			18
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
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			14
rs121918461	PTPN11	0.827	0.240	12	112450362	missense variant	A/C;G;T	snv			12
rs397507514	PTPN11	0.790	0.240	12	112450408	missense variant	G/C;T	snv			10
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			9
rs869025191	RIT1	0.827	0.160	1	155904739	missense variant	C/A;G;T	snv			9
rs121918458	PTPN11	0.807	0.320	12	112489080	missense variant	T/A;G	snv			8
rs397507517	PTPN11	0.827	0.160	12	112450497	missense variant	A/C	snv			8
rs397507540	PTPN11	0.851	0.160	12	112489048	missense variant	C/A;T	snv			8
rs397517150	SOS1	0.827	0.160	2	39023118	missense variant	A/C;G	snv			7