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
rs3130	PROM1 ; FGFBP2	0.882	0.080	4	15968315	3 prime UTR variant	T/A;C	snv			6
rs2286455	PROM1	1.000	0.080	4	16018539	splice region variant	C/T	snv	0.14	9.9E-02	2