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
rs415929	NOTCH4	0.925	0.200	6	32221255	synonymous variant	T/C	snv	0.31	0.29	2
rs8192590	NOTCH4	1.000	0.080	6	32220006	intron variant	C/G	snv		1.9E-02	1