DisGeNET - a database of gene-disease associations

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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
rs4754	SPP1	0.752	0.360	4	87981540	missense variant	T/A;C	snv	0.32		12
rs9138	SPP1	0.776	0.360	4	87983190	3 prime UTR variant	A/C;T	snv			12
rs1126616	SPP1	0.827	0.280	4	87982701	synonymous variant	C/G;T	snv	0.32	0.26	8