DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Disease: Neoplastic Syndromes, Hereditary

Source: ALL

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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
rs1131691016	TP53	0.925	0.240	17	7673699	splice donor variant	A/C;T	snv			3
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs1555526469	TP53	0.925	0.240	17	7675992	splice donor variant	A/C;G;T	snv			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
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
rs587782528	RAD51C ; TEX14	0.882	0.200	17	58692740	stop gained	C/T	snv	1.2E-05	1.4E-05	4
rs730881942	RAD51C ; TEX14	0.882	0.200	17	58692733	frameshift variant	G/-	delins		2.8E-05	4
rs730881932	RAD51C ; LOC105371843	1.000	0.200	17	58724069	missense variant	C/T	snv	8.0E-06		2
rs1060502601	RAD51C	0.882	0.200	17	58709884	frameshift variant	T/-	delins			4
rs1327086366	RAD51C	0.925	0.200	17	58696858	splice donor variant	G/-	delins	4.0E-06		3
rs1555602141	RAD51C	0.925	0.200	17	58720795	frameshift variant	TTGTTCCTGC/-	delins			3
rs1567799943	RAD51C	0.925	0.200	17	58709992	splice donor variant	T/C	snv			3
rs200293302	RAD51C	0.882	0.200	17	58703201	stop gained	C/T	snv	4.0E-05		4
rs387907159	RAD51C	0.882	0.200	17	58695182	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		4
rs730881939	RAD51C	0.851	0.200	17	58695008	stop gained	-/A	delins			5
rs767796996	RAD51C	0.827	0.200	17	58695189	stop gained	G/A;C	snv	4.1E-06		6
rs770637624	RAD51C	0.882	0.200	17	58709862	stop gained	C/T	snv	1.6E-05	1.4E-05	4
rs764896402	RAD51B	1.000	0.200	14	67823627	splice region variant	G/A	snv	4.0E-06		2
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		11
rs1555460445	PALB2	0.925	0.200	16	23629936	stop gained	G/A	snv			3