DisGeNET - a database of gene-disease associations

List of associated variants

Triple Negative Breast Neoplasms, C3539878

Source: ALL

Results per page

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
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs1412125	HMGB1	0.724	0.360	13	30467458	intron variant	C/G;T	snv			17
rs1360485	HMGB1	0.742	0.320	13	30457747	3 prime UTR variant	C/T	snv		0.58	16
rs56391007	MET	0.752	0.200	7	116771936	missense variant	C/T	snv	7.9E-03	9.0E-03	16
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs2228014	CXCR4	0.752	0.240	2	136115514	synonymous variant	G/A	snv	4.6E-02	3.5E-02	14
rs16999593	DNMT1	0.742	0.240	19	10180505	missense variant	T/C	snv	2.4E-02	9.6E-03	14
rs8170	BABAM1 ; USHBP1	0.724	0.160	19	17278895	synonymous variant	G/A	snv	0.15	0.18	13
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		11
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		11
rs4987188	MSH2	0.790	0.200	2	47416318	missense variant	G/A;T	snv	1.3E-02; 2.0E-05		11
rs17217772	MSH2	0.790	0.240	2	47410107	missense variant	A/C;G;T	snv	5.8E-03		10
rs2363956	ANKLE1	0.776	0.160	19	17283315	missense variant	T/G	snv	0.48	0.50	8
rs4784227	CASC16	0.807	0.160	16	52565276	intron variant	C/T	snv		0.20	8
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03		8
rs3865014	GLCE	0.851	0.080	15	69269179	missense variant	G/A	snv	0.75	0.69	8
rs999737	RAD51B	0.776	0.200	14	68567965	intron variant	C/T	snv		0.16	8
rs4849887		0.807	0.080	2	120487546	intergenic variant	T/A;C	snv			7
rs2020912	MSH6 ; FBXO11	0.807	0.480	2	47800616	missense variant	T/C;G	snv	5.1E-03		7
rs765433422	PTEN	0.807	0.160	10	87952250	stop gained	G/A;T	snv	8.0E-06	7.0E-06	7
rs4415084		0.827	0.080	5	44662413	upstream gene variant	C/T	snv		0.49	6
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6