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 GENOME	Num. diseases
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv	0.71	140
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv	0.32	62
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins	2.8E-04	26