DisGeNET - a database of gene-disease associations

Disease: Splenomegaly

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	Num. diseases
rs1567705064	G6PC	1.000	0.080	17	42907570	frameshift variant	ATGGTCACATCTA/-	del		8
rs878853315	GBA	0.925	0.160	1	155236292	missense variant	G/C	snv		5
rs878853320	GBA	1.000	0.120	1	155235303	missense variant	A/C	snv	4.0E-06	3