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
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
rs183433761	GCG ; LOC101929532	0.851	0.200	2	162152278	5 prime UTR variant	T/C;G	snv			5
rs10941679		0.763	0.120	5	44706396	intergenic variant	A/G	snv		0.25	11
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2046210		0.708	0.280	6	151627231	intergenic variant	G/A	snv		0.41	21
rs9383938	ESR1	0.827	0.160	6	151666222	intron variant	G/T	snv		0.11	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
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
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
rs2981579	FGFR2	0.776	0.280	10	121577821	intron variant	A/G	snv		0.53	8
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs34598529	HBB	0.724	0.280	11	5227100	5 prime UTR variant	T/C	snv		8.9E-04	14
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10
rs33931746	HBB	0.807	0.280	11	5227099	5 prime UTR variant	T/C;G	snv			6
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
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
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
rs397509430	HBB	0.882	0.200	11	5227101	5 prime UTR variant	A/-	del			3
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29