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 EXOME	AF GENOME	Num. diseases
rs7832708	MSRA	8	10332530	intron variant	C/T	snv		0.49	4
rs41301394	POR	7	75983485	non coding transcript exon variant	C/T	snv	0.30	0.26	2
rs77915916	ZNF318	6	43319984	intron variant	A/T	snv		5.9E-02	2