DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome, C0028326

Disease: LEOPARD Syndrome

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
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
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			13
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			13
rs121918470	PTPN11	0.790	0.160	12	112489105	missense variant	A/C;G	snv	4.0E-06		10
rs397507542	PTPN11	0.790	0.320	12	112489069	missense variant	G/T	snv			9
rs80338797	RAF1	0.827	0.160	3	12584624	missense variant	G/C;T	snv			7
rs397507548	PTPN11	0.851	0.160	12	112489093	missense variant	A/C	snv			6
rs397507529	PTPN11	0.851	0.160	12	112473031	missense variant	A/G	snv		7.0E-06	5
rs397507541	PTPN11	0.827	0.160	12	112489068	missense variant	C/T	snv	4.0E-06	7.0E-06	5
rs397509345	PTPN11	0.851	0.160	12	112489093	missense variant	AG/CC	mnv			5
rs121918469	PTPN11	0.882	0.160	12	112488454	missense variant	G/C	snv			3
rs397507523	PTPN11	0.882	0.160	12	112472954	missense variant	A/G	snv			3
rs80338799	RAF1	0.882	0.160	3	12585745	missense variant	G/A;C	snv			3