DisGeNET - a database of gene-disease associations

List of associated variants

Multiple lentigines, C1328931

Source: INFERRED ×

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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			34
rs121918457	PTPN11	0.701	0.280	12	112488466	missense variant	C/T	snv	4.0E-06	7.0E-06	18
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
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
rs397507539	PTPN11	0.851	0.160	12	112489047	missense variant	C/A;G;T	snv	4.0E-06		8
rs397507540	PTPN11	0.851	0.160	12	112489048	missense variant	C/A;T	snv			8
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			6
rs397507509	PTPN11	0.807	0.240	12	112450359	missense variant	G/C;T	snv			5
rs397507548	PTPN11	0.851	0.160	12	112489093	missense variant	A/C	snv			1