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 GENOME	Num. diseases
rs987237	TFAP2B	0.925	0.120	6	50835337	intron variant	A/G	snv	0.17	5
rs2206277	TFAP2B	0.925	0.080	6	50830813	intron variant	C/T	snv	0.19	4
rs2206271	TFAP2B			6	50818295	upstream gene variant	T/A	snv	0.32	3