DisGeNET - a database of gene-disease associations

List of associated variants

Breast Carcinoma, C0678222

Source: CLINVAR ×

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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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			20
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		18
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			18
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			14
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			13
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv			12
rs1057520006	TP53	0.752	0.240	17	7673799	missense variant	A/C;G;T	snv			12
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	11
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		11
rs375874539	TP53	0.732	0.320	17	7674237	missense variant	G/A;C	snv			11
rs587780071	TP53	0.732	0.240	17	7674951	missense variant	G/A	snv			11
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10