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	Num. diseases
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05	78
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
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
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	57
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06	42
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv		42
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02	37
rs2249825	HMGB1	0.695	0.440	13	30463766	5 prime UTR variant	G/A;C;T	snv		23
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05	18
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
rs1042821	MSH6	0.732	0.280	2	47783349	missense variant	G/A;C;T	snv	0.18; 8.6E-06	16
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
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06	11
rs17217772	MSH2	0.790	0.240	2	47410107	missense variant	A/C;G;T	snv	5.8E-03	10
rs144567652	FANCM	0.776	0.200	14	45198718	stop gained	C/A;T	snv	4.0E-06; 1.0E-03	8
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
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv		6
rs587779287	FBXO11 ; MSH6	0.827	0.200	2	47806280	frameshift variant	GTACATTATTTTC/-	delins		5
rs80357367	BRCA1	0.851	0.200	17	43057090	stop gained	G/A	snv		5