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
rs6503319	MYH3	1.000	0.040	17	10670842	downstream gene variant	C/T	snv		0.31	1
rs16943577	MYH3			17	10635129	intron variant	G/C	snv		2.6E-02	1