DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: PALB2 ×

Results per page

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
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		8
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	8