DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Red Blood Cell Count measurement ×

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
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv		0.30	4
rs11066320	PTPN11	0.925	0.120	12	112468611	intron variant	A/G	snv		0.70	4