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
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	10
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		6
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	4