DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Colorectal Neoplasms ×

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
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			7
rs121918465	PTPN11	0.827	0.200	12	112450407	missense variant	A/C;G;T	snv			6
rs397507546	PTPN11	0.790	0.360	12	112489084	missense variant	G/A;C;T	snv			6