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
rs34598529	HBB	0.724	0.280	11	5227100	5 prime UTR variant	T/C	snv		8.9E-04	14
rs33980857	HBB	0.827	0.280	11	5227101	5 prime UTR variant	A/C;G;T	snv			5
rs397509430	HBB	0.882	0.200	11	5227101	5 prime UTR variant	A/-	del			3
rs33981098	HBB	0.827	0.280	11	5227102	5 prime UTR variant	T/C;G	snv			5
rs34500389	HBB	0.851	0.280	11	5227103	5 prime UTR variant	G/A;T	snv			4
rs34166473	HBD	0.827	0.320	11	5234513	5 prime UTR variant	A/G	snv		7.0E-06	6
rs35518301	HBD	0.827	0.200	11	5234514	5 prime UTR variant	T/C	snv			6
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs72661131	MBL2	0.742	0.480	10	52771739	upstream gene variant	A/G	snv		7.6E-04	15
rs562962093	MBL2	0.742	0.520	10	52771740	upstream gene variant	T/C	snv		7.0E-06	13
rs6504950	STXBP4	0.807	0.120	17	54979110	intron variant	G/A	snv		0.29	7
rs35036378	ESR2	0.851	0.200	14	64294403	5 prime UTR variant	A/C	snv		7.0E-03	5
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
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
rs2588809	RAD51B	0.807	0.160	14	68193711	intron variant	T/C	snv		0.80	6
rs1314913	RAD51B	0.807	0.120	14	68232877	intron variant	C/T	snv		0.13	6
rs999737	RAD51B	0.776	0.200	14	68567965	intron variant	C/T	snv		0.16	8