DisGeNET - a database of gene-disease associations

List of shared variants

Noonan Syndrome 1, C4551602

Disease: LEOPARD Syndrome

Source: CLINVAR ×

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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
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	18
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			11
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			8
rs387906661	BRAF	0.807	0.280	7	140801551	missense variant	T/G	snv			6
rs397507466	BRAF	0.807	0.280	7	140801537	missense variant	T/A;C;G	snv	4.0E-06		6
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			6
rs397507541	PTPN11	0.827	0.160	12	112489068	missense variant	C/T	snv	4.0E-06	7.0E-06	4
rs397507523	PTPN11	0.882	0.160	12	112472954	missense variant	A/G	snv			3