DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of male breast, C0242787

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
rs1314913	RAD51B	0.807	0.120	14	68232877	intron variant	C/T	snv		0.13	6
rs2588809	RAD51B	0.807	0.160	14	68193711	intron variant	T/C	snv		0.80	6
rs137852576	AR	0.827	0.240	X	67686067	missense variant	G/A	snv			5
rs9383938	ESR1	0.827	0.160	6	151666222	intron variant	G/T	snv		0.11	5
rs35036378	ESR2	0.851	0.200	14	64294403	5 prime UTR variant	A/C	snv		7.0E-03	5
rs183433761	GCG ; LOC101929532	0.851	0.200	2	162152278	5 prime UTR variant	T/C;G	snv			5
rs33980857	HBB	0.827	0.280	11	5227101	5 prime UTR variant	A/C;G;T	snv			5
rs33981098	HBB	0.827	0.280	11	5227102	5 prime UTR variant	T/C;G	snv			5
rs200487063	LEP	0.851	0.200	7	128241246	upstream gene variant	G/A	snv		2.1E-05	5
rs34104384	LEP	0.851	0.200	7	128241254	upstream gene variant	A/T	snv		8.2E-03	5
rs201739205	LOC108783654 ; HSD17B1	0.851	0.200	17	42552898	5 prime UTR variant	A/C	snv	7.8E-03	8.2E-03	5
rs55971303	BRCA1	0.851	0.120	17	43104138	missense variant	G/T	snv	1.0E-04	4.2E-05	4
rs56187033	BRCA1	0.851	0.200	17	43099786	missense variant	T/C	snv	2.6E-04	2.9E-04	4
rs281864525	HBB	0.851	0.280	11	5227097	5 prime UTR variant	T/A;G	snv		7.0E-06	4
rs34500389	HBB	0.851	0.280	11	5227103	5 prime UTR variant	G/A;T	snv			4
rs202155613	BRCA2	0.882	0.200	13	32379902	stop gained	C/A;G;T	snv	4.0E-05		3
rs397509430	HBB	0.882	0.200	11	5227101	5 prime UTR variant	A/-	del			3
rs786203411	BRCA2	0.925	0.120	13	32398582	missense variant	A/G	snv		7.0E-06	2