DisGeNET - a database of gene-disease associations

List of associated variants

Invasive Ductal Breast Carcinoma, C1134719

Source: INFERRED ×

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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
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs397509072	BRCA1	0.925	0.080	17	43092059	stop gained	C/A	snv			3
rs11249433	EMBP1	0.827	0.160	1	121538815	intron variant	A/C;G	snv			3
rs397507894	BRCA2	0.925	0.080	13	32354919	frameshift variant	TT/-;TTT	delins			2
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		1
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			1
rs1555284612	BRCA2	1.000	0.080	13	32340610	frameshift variant	ATCA/-	delins			1