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
rs7215775	TBX2			17	61406955	non coding transcript exon variant	A/G	snv		0.68	2
rs7495833	WDR72			15	53651121	intron variant	C/A	snv		0.37	2