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
rs886042805	TTC7A	0.827	0.080	2	46950464	stop gained	G/T	snv			5
rs886042806	TTC7A	0.827	0.080	2	47006038	frameshift variant	-/C	delins			5