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
rs3752462	MYH9	0.827	0.160	22	36314138	splice region variant	T/C	snv	0.57	0.53	7
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306