DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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 GENOME	Num. diseases
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins		87
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv		38
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del	2.1E-05	27