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
rs1800012	COL1A1	0.763	0.320	17	50200388	intron variant	C/A	snv		0.14	13
rs3134646		0.925	0.080	2	189015117	downstream gene variant	G/A	snv		0.41	2