DisGeNET - a database of gene-disease associations

List of associated variants

bilateral breast cancer, C0281267

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
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	12
rs80359604	BRCA2	0.763	0.320	13	32329468	frameshift variant	GT/-	delins			10
rs1800054	ATM	0.827	0.080	11	108227849	missense variant	C/G;T	snv	7.1E-03		7
rs80357287	NBR2 ; BRCA1	0.882	0.200	17	43124096	start lost	T/C	snv			5
rs863224464	BRCA2	0.925	0.200	13	32316461	start lost	A/G	snv			4
rs587781299	ATM ; C11orf65	0.925	0.280	11	108327665	frameshift variant	-/A	delins			3
rs149726976	GALNT12	0.882	0.120	9	98831929	missense variant	C/T	snv	2.7E-04	4.5E-04	3
rs869312772	PALB2	0.925	0.080	16	23635383	frameshift variant	G/-;GG	delins			3
rs1064794662	BRCA1	0.925	0.080	17	43049129	frameshift variant	G/-	delins			2
rs397507802	BRCA2	0.925	0.080	13	32326555	frameshift variant	-/A	delins			2
rs570278423	SDHB	1.000	0.080	1	17033077	missense variant	C/T	snv	8.0E-06	3.5E-05	2
rs869312782	TP53	1.000	0.080	17	7676167	stop gained	C/A;G	snv			2
rs879255477	BRCA1	1.000	0.080	17	43106526	start lost	T/C	snv			1
rs62625284	PALB2	1.000	0.080	16	23603592	missense variant	A/G;T	snv	1.7E-04; 8.0E-06		1
rs75023630	PALB2	1.000	0.080	16	23635054	missense variant	C/A;T	snv	4.8E-04		1