DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Amyloid nephropathy ×

Variants associated to the Gene: MEFV ×

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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
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs28940579	MEFV	0.732	0.440	16	3243310	missense variant	A/G;T	snv	2.2E-03; 4.0E-06		13