DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of breast, C0006142

Source: BEFREE ×

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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
rs1462893414	ESR1	0.882	0.080	6	151944323	missense variant	A/G	snv	4.0E-06	7.0E-06	5
rs151322829	FAN1	0.882	0.080	15	30905792	missense variant	C/G;T	snv	4.2E-03		5
rs16917302	ZNF365	0.851	0.080	10	62501439	intron variant	A/C	snv		0.18	5
rs16940	BRCA1	0.882	0.080	17	43093220	synonymous variant	A/G	snv	0.35	0.29	5
rs17748	TREH ; PHLDB1	0.827	0.080	11	118657714	3 prime UTR variant	C/T	snv		0.18	5
rs1799944	BRCA2	0.882	0.080	13	32337326	missense variant	A/G	snv	5.4E-02	4.5E-02	5
rs180177111	PALB2	0.925	0.080	16	23629831	stop gained	G/A	snv	4.0E-06		5
rs28363284	RAD51D ; RAD51L3-RFFL	0.882	0.080	17	35103294	missense variant	T/C	snv	9.7E-03	1.1E-02	5
rs3741378	SIPA1	0.851	0.080	11	65641466	missense variant	C/G;T	snv	0.15		5
rs570613	GATA3	0.925	0.080	10	8064539	intron variant	C/T	snv		0.60	5
rs10109984	PRKDC	0.925	0.080	8	47891114	intron variant	T/C	snv		0.54	4
rs1056123575	ADAMTS1	0.925	0.080	21	26844557	missense variant	G/A	snv	4.2E-06	7.0E-06	4
rs1062577	ESR1	0.882	0.080	6	152102770	3 prime UTR variant	T/A;G	snv			4
rs1064793184	FBXO11 ; MSH6	0.851	0.080	2	47791055	missense variant	A/G	snv			4
rs10771399		0.827	0.080	12	28002147	intergenic variant	A/G	snv		8.9E-02	4
rs10822013	ZNF365	0.851	0.080	10	62492218	intron variant	C/T	snv		0.42	4
rs1114167628	PTEN	0.925	0.080	10	87961033	stop gained	-/ATATCTAG	delins			4
rs1114167795	FBXO11 ; MSH6	0.851	0.080	2	47799482	missense variant	C/T	snv			4
rs11552449	AP4B1 ; DCLRE1B	0.925	0.080	1	113905767	missense variant	C/G;T	snv	0.22	0.15	4
rs1172398253	CCN1	0.925	0.080	1	85582045	missense variant	C/T	snv	4.0E-06		4
rs11780156	PVT1	0.925	0.080	8	128182395	intron variant	C/T	snv		0.13	4
rs11895168	ERBB4	0.925	0.080	2	211377467	3 prime UTR variant	A/C	snv		0.68	4
rs121917739	RAD51	0.882	0.080	15	40718818	missense variant	G/A	snv	3.7E-04	1.7E-03	4
rs12662670	CCDC170	0.851	0.080	6	151597721	intron variant	T/C;G	snv			4
rs1292011	LOC105370003	0.851	0.080	12	115398717	regulatory region variant	A/G	snv		0.43	4