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
rs6504950	STXBP4	0.807	0.120	17	54979110	intron variant	G/A	snv		0.29	7
rs137852573	AR	0.807	0.280	X	67686064	missense variant	G/A	snv			6
rs137852576	AR	0.827	0.240	X	67686067	missense variant	G/A	snv			5
rs200487063	LEP	0.851	0.200	7	128241246	upstream gene variant	G/A	snv		2.1E-05	5
rs137852593	AR	0.827	0.160	X	67717484	missense variant	G/A;C;T	snv	2.2E-05; 1.1E-05; 9.1E-04		8
rs34500389	HBB	0.851	0.280	11	5227103	5 prime UTR variant	G/A;T	snv			4
rs9383938	ESR1	0.827	0.160	6	151666222	intron variant	G/T	snv		0.11	5
rs55971303	BRCA1	0.851	0.120	17	43104138	missense variant	G/T	snv	1.0E-04	4.2E-05	4
rs281864525	HBB	0.851	0.280	11	5227097	5 prime UTR variant	T/A;G	snv		7.0E-06	4
rs34598529	HBB	0.724	0.280	11	5227100	5 prime UTR variant	T/C	snv		8.9E-04	14
rs562962093	MBL2	0.742	0.520	10	52771740	upstream gene variant	T/C	snv		7.0E-06	13
rs2588809	RAD51B	0.807	0.160	14	68193711	intron variant	T/C	snv		0.80	6
rs35518301	HBD	0.827	0.200	11	5234514	5 prime UTR variant	T/C	snv			6
rs56187033	BRCA1	0.851	0.200	17	43099786	missense variant	T/C	snv	2.6E-04	2.9E-04	4
rs33931746	HBB	0.807	0.280	11	5227099	5 prime UTR variant	T/C;G	snv			6
rs183433761	GCG ; LOC101929532	0.851	0.200	2	162152278	5 prime UTR variant	T/C;G	snv			5
rs33981098	HBB	0.827	0.280	11	5227102	5 prime UTR variant	T/C;G	snv			5
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10