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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs104893973	IFNGR1	0.925		6	137206249	missense variant	A/G	snv	1.6E-05	1.4E-05	2