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	Num. diseases
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv	58
rs137854461	FBN1	0.790	0.280	15	48437026	missense variant	T/C	snv	12
rs397515804	FBN1	0.776	0.200	15	48472628	missense variant	C/A;T	snv	11