DisGeNET - a database of gene-disease associations

List of associated variants

Mammary Neoplasms, C1458155

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
rs1555582520	BRCA1			17	43076486	splice donor variant	A/G	snv			1
rs1555913881	CHEK2			22	28695841	frameshift variant	T/-	del			1
rs1704754	HSD17B7			1	162790761	5 prime UTR variant	C/T	snv	0.70	0.62	1
rs201498575	EGFR			7	55165359	missense variant	G/A	snv	4.0E-06		1
rs35766612	TGFBR2			3	30672342	missense variant	G/A;T	snv	1.0E-03; 3.5E-04		1
rs397508979	BRCA1			17	43092974	frameshift variant	-/GAAAAGTGAA	ins			1
rs398122710	BRCA2			13	32371100	missense variant	G/A	snv			1
rs555016384	CCR6			6	167136139	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs55680408	BRCA1			17	43095875	missense variant	T/A;C	snv	3.6E-05	2.8E-05	1
rs587779003	MLH1			3	37004401	missense variant	G/A;C	snv			1
rs587782137	BRCA2			13	32316471	missense variant	G/A;C	snv	2.4E-05		1
rs587782620	TP53			17	7675185	missense variant	C/A;T	snv			1
rs730881360	ATM			11	108227629	missense variant	G/A;C	snv			1
rs752908306	HERC2			15	28272372	missense variant	G/A;C	snv	8.0E-06		1
rs886037788	BRCA1			17	43091461	frameshift variant	-/TCAA	ins			1
rs886037789	BRCA1			17	43071159	frameshift variant	T/-	del			1
rs886037797	BRCA2			13	32332667	frameshift variant	AACTAACC/-	delins			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101