DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Breast Carcinoma ×

Variants associated to the Gene: BRCA1 ×

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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
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		16
rs1799950	BRCA1	0.752	0.240	17	43094464	missense variant	T/C	snv	4.7E-02	4.6E-02	13
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		12
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		11
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		11
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del			11
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		10
rs748876625	BRCA1	0.807	0.160	17	43104122	missense variant	C/A;G	snv	1.2E-05		10
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs397508986	BRCA1	0.807	0.280	17	43092919	frameshift variant	G/AA	delins			9
rs41293463	BRCA1	0.790	0.280	17	43051071	missense variant	A/C;T	snv	1.2E-05		9
rs80357138	BRCA1	0.763	0.200	17	43094776	missense variant	C/T	snv	8.0E-06		9
rs1799966	BRCA1	0.807	0.280	17	43071077	missense variant	T/A;C	snv	5.2E-05; 0.35		8
rs80357086	BRCA1	0.851	0.200	17	43106480	stop gained	A/G;T	snv			8
rs80357750	BRCA1	0.790	0.200	17	43115759	frameshift variant	G/-	delins			8
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		8
rs11655505	NBR2 ; BRCA1	0.776	0.160	17	43126360	intron variant	G/A	snv		0.31	8
rs16941	BRCA1	0.827	0.240	17	43092418	missense variant	T/C;G	snv	0.35		7
rs80357610	BRCA1	0.851	0.160	17	43094550	frameshift variant	GT/-	delins			7
rs886039920	BRCA1	0.807	0.160	17	43115755	frameshift variant	ACAGG/-	delins			7
rs1800709	BRCA1	0.851	0.160	17	43093010	missense variant	G/A	snv	1.7E-03	1.4E-03	6
rs786203319	BRCA1	0.827	0.160	17	43115759	missense variant	G/A	snv			6
rs8176318	BRCA1	0.807	0.120	17	43045257	3 prime UTR variant	C/A	snv	0.34	0.29	6
rs16940	BRCA1	0.882	0.080	17	43093220	synonymous variant	A/G	snv	0.35	0.29	5