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	Num. diseases
rs1331463984	TRAF7	0.701	0.240	16	2176350	missense variant	G/A	snv	33
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv	12
rs1131692229	KIDINS220	0.851	0.120	2	8730956	frameshift variant	GT/-	delins	11