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
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78