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
rs149317277	ITGB8	0.925	0.080	7	20384300	intron variant	-/GAAACAAGATTCT;GAACCAAGATTCT	delins		0.36	2
rs3757727	ITGB8	1.000	0.080	7	20372274	intron variant	T/C	snv		0.38	1