DisGeNET - a database of gene-disease associations

List of associated variants

Triple Negative Breast Neoplasms, C3539878

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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2814778	CADM3-AS1 ; ACKR1	0.763	0.360	1	159204893	5 prime UTR variant	T/C	snv		0.25	24
rs12075	CADM3-AS1 ; ACKR1	0.724	0.240	1	159205564	missense variant	G/A	snv	0.51	0.66	22
rs148047459	MUL1	0.925	0.080	1	20501166	missense variant	G/A	snv	8.0E-06	2.1E-05	2
rs2077197	PARP1	0.925	0.080	1	226408338	upstream gene variant	C/G;T	snv			2
rs72631823	MIR34A ; MIR34AHG	0.925	0.080	1	9151723	non coding transcript exon variant	C/T	snv	1.2E-04	4.1E-04	2
rs7527192	PARP1	0.925	0.080	1	226408378	upstream gene variant	C/T	snv		0.23	2
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
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
rs2020912	MSH6 ; FBXO11	0.807	0.480	2	47800616	missense variant	T/C;G	snv	5.1E-03		7
rs4849887		0.807	0.080	2	120487546	intergenic variant	T/A;C	snv			7
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs587779287	FBXO11 ; MSH6	0.827	0.200	2	47806280	frameshift variant	GTACATTATTTTC/-	delins			5
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5
rs1064793184	FBXO11 ; MSH6	0.851	0.080	2	47791055	missense variant	A/G	snv			4
rs1114167795	FBXO11 ; MSH6	0.851	0.080	2	47799482	missense variant	C/T	snv			4
rs13000023	LOC101928278 ; LOC105373873	0.851	0.080	2	217059671	downstream gene variant	G/A;C;T	snv		0.19	4
rs769772228	CXCR4	0.925	0.080	2	136115346	missense variant	C/G	snv	2.0E-05	4.9E-05	2
rs80350973	LOC730100	0.925	0.080	2	52252219	intron variant	A/T	snv		2.1E-05	2
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs750040814	XPC	0.827	0.160	3	14158639	missense variant	C/T	snv	1.6E-05	5.6E-05	5