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
rs12446589	TUFM ; SH2B1			16	28859641	intron variant	G/A	snv		0.30	2
rs5757673				22	39441915	downstream gene variant	T/C	snv		0.79	2