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	Chr	Position	Consequence	Alleles	Class	AF GENOME	Num. diseases
rs1496255		4	120683279	downstream gene variant	G/A;T	snv		4
rs41434646	LOC102724340 ; LOC105373776	2	184295785	intron variant	A/C;G	snv	4.7E-03	3
rs9833533	FHIT	3	60582520	intron variant	G/A	snv	8.3E-02	2