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
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs10274701	EZH2	0.925	0.080	7	148855364	intron variant	C/T	snv		0.76	2
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06		16
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1054135	FABP4 ; LOC101927118	0.851	0.240	8	81478525	3 prime UTR variant	C/T	snv		0.17	5
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs1064793184	FBXO11 ; MSH6	0.851	0.080	2	47791055	missense variant	A/G	snv			4
rs1064793309	BRCA1	0.925	0.080	17	43063889	missense variant	C/T	snv			2
rs10771399		0.827	0.080	12	28002147	intergenic variant	A/G	snv		8.9E-02	5
rs1114167795	FBXO11 ; MSH6	0.851	0.080	2	47799482	missense variant	C/T	snv			4
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs12075	CADM3-AS1 ; ACKR1	0.724	0.240	1	159205564	missense variant	G/A	snv	0.51	0.66	22
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121913016	ERCC2	0.827	0.160	19	45357368	missense variant	G/C	snv	1.2E-03	4.4E-04	5
rs1219648	FGFR2	0.716	0.320	10	121586676	intron variant	A/G;T	snv			17
rs1235679626	MORC2	0.925	0.080	22	30940834	missense variant	C/T	snv		1.4E-05	3
rs12662670	CCDC170	0.851	0.080	6	151597721	intron variant	T/C;G	snv			4
rs13000023	LOC101928278 ; LOC105373873	0.851	0.080	2	217059671	downstream gene variant	G/A;C;T	snv		0.19	4
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1360485	HMGB1	0.742	0.320	13	30457747	3 prime UTR variant	C/T	snv		0.58	16
rs1412125	HMGB1	0.724	0.360	13	30467458	intron variant	C/G;T	snv			17
rs141366047	PRKN	0.882	0.120	6	161785829	missense variant	G/A;C;T	snv	4.0E-06; 1.2E-05; 9.6E-05		3