DisGeNET - a database of gene-disease associations

List of shared variants

Polycythemia, C0032461

Disease: Erythrocytosis familial, 1

Source: ALL

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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		187
rs62638745	EPOR	0.882	0.080	19	11378051	missense variant	T/C	snv	6.3E-03	6.2E-03	3