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
rs74315342	NPHS2	0.763	0.120	1	179561327	missense variant	C/T	snv	6.0E-04	5.3E-04	10
rs749740335	NPHS2 ; AXDND1	0.925	0.080	1	179552620	frameshift variant	TT/-	delins	6.8E-05	9.1E-05	3