DisGeNET - a database of gene-disease associations

List of associated variants

Invasive Ductal Breast Carcinoma, C1134719

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs11249433	EMBP1	0.827	0.160	1	121538815	intron variant	A/C;G	snv			9
rs1043994	NOTCH3	0.827	0.120	19	15192033	synonymous variant	T/A;C	snv	4.0E-06; 0.85		7
rs3124591	NOTCH1	0.827	0.120	9	136495945	3 prime UTR variant	C/T	snv		0.62	6
rs3815188	NOTCH3	0.827	0.120	19	15192414	synonymous variant	G/A;T	snv	0.17		6
rs367398	NOTCH4	0.827	0.160	6	32223953	5 prime UTR variant	G/A	snv	0.34	0.40	5
rs397509072	BRCA1	0.925	0.080	17	43092059	stop gained	C/A	snv			3
rs520692	NOTCH4	0.882	0.120	6	32220863	missense variant	T/C	snv	0.31	0.29	3
rs397507894	BRCA2	0.925	0.080	13	32354919	frameshift variant	TT/-;TTT	delins			2
rs780881510	ERBB2	0.925	0.080	17	39715299	missense variant	A/C	snv	1.2E-05		2
rs1555284612	BRCA2	1.000	0.080	13	32340610	frameshift variant	ATCA/-	delins			1
rs145459032	PIK3CG	1.000	0.080	7	106867607	missense variant	A/C;G	snv	2.0E-05	2.1E-05	1