DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: leukemia ×

Variants associated to the Gene: JAK2 ×

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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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		181
rs923941004	JAK2 ; INSL6	1.000	0.040	9	5078334	missense variant	T/C	snv			1