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
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs10941679		0.763	0.120	5	44706396	intergenic variant	A/G	snv		0.25	11
rs1314913	RAD51B	0.807	0.120	14	68232877	intron variant	C/T	snv		0.13	6
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
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
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs183433761	GCG ; LOC101929532	0.851	0.200	2	162152278	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
rs201739205	LOC108783654 ; HSD17B1	0.851	0.200	17	42552898	5 prime UTR variant	A/C	snv	7.8E-03	8.2E-03	5
rs202155613	BRCA2	0.882	0.200	13	32379902	stop gained	C/A;G;T	snv	4.0E-05		3
rs2046210		0.708	0.280	6	151627231	intergenic variant	G/A	snv		0.41	21
rs2588809	RAD51B	0.807	0.160	14	68193711	intron variant	T/C	snv		0.80	6
rs281864525	HBB	0.851	0.280	11	5227097	5 prime UTR variant	T/A;G	snv		7.0E-06	4
rs2981579	FGFR2	0.776	0.280	10	121577821	intron variant	A/G	snv		0.53	8
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
rs33931746	HBB	0.807	0.280	11	5227099	5 prime UTR variant	T/C;G	snv			6
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
rs34104384	LEP	0.851	0.200	7	128241254	upstream gene variant	A/T	snv		8.2E-03	5
rs34166473	HBD	0.827	0.320	11	5234513	5 prime UTR variant	A/G	snv		7.0E-06	6