DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Abnormality of coagulation ×

Variants associated to the Gene: PTPN11 ×

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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
rs397507545	PTPN11	0.708	0.560	12	112489083	missense variant	G/A;C	snv	4.0E-06		20
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			19
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			13