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
rs11465996	LY96	0.790	0.240	8	73989727	upstream gene variant	C/G	snv		0.25	7
rs1048719	GM2A	0.925	0.080	5	151253271	missense variant	G/A	snv	6.1E-02	3.7E-02	2
rs2075783	GM2A	0.925	0.080	5	151267219	3 prime UTR variant	A/C	snv		0.22	2