DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Hereditary Breast and Ovarian Cancer Syndrome ×

Variants associated to the Gene: RAD51L3-RFFL ×

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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
rs370228071	RAD51D ; RAD51L3-RFFL	0.882	0.200	17	35103501	missense variant	G/A;C	snv	2.8E-05	2.1E-05	6
rs587780104	RAD51D ; RAD51L3-RFFL	0.882	0.200	17	35103298	stop gained	G/A;C;T	snv	1.2E-05		4
rs587780105	RAD51D ; RAD51L3-RFFL	0.925	0.200	17	35101356	frameshift variant	G/-	delins	4.0E-06		3
rs387906843	RAD51L3-RFFL ; RAD51D	0.925	0.200	17	35106406	stop gained	G/A	snv	4.0E-05	2.8E-05	3
rs561425038	RAD51L3-RFFL ; RAD51D	0.925	0.200	17	35119613	start lost	T/A;C;G	snv	4.1E-06		3
rs730881935	RAD51L3-RFFL ; RAD51D	0.925	0.200	17	35107105	frameshift variant	T/-	del	1.6E-05		3
rs750621215	RAD51L3-RFFL ; RAD51D	0.925	0.200	17	35101206	stop gained	G/A	snv	2.8E-05	2.1E-05	3