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
rs10895068	PGR ; PGR-AS1	0.752	0.240	11	101129483	5 prime UTR variant	C/T	snv		3.6E-02	14
rs367732974	F7	0.790	0.360	13	113105788	5 prime UTR variant	G/A	snv	8.9E-05	2.8E-05	9
rs549591993	F7	0.776	0.400	13	113105794	5 prime UTR variant	C/A	snv	4.0E-04	2.8E-05	12
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
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
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
rs183433761	GCG ; LOC101929532	0.851	0.200	2	162152278	5 prime UTR variant	T/C;G	snv			5
rs13387042	LOC105373874 ; LOC101928278	0.732	0.280	2	217041109	intergenic variant	A/G	snv		0.44	16
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
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs202155613	BRCA2	0.882	0.200	13	32379902	stop gained	C/A;G;T	snv	4.0E-05		3
rs786203411	BRCA2	0.925	0.120	13	32398582	missense variant	A/G	snv		7.0E-06	2
rs201739205	LOC108783654 ; HSD17B1	0.851	0.200	17	42552898	5 prime UTR variant	A/C	snv	7.8E-03	8.2E-03	5
rs56187033	BRCA1	0.851	0.200	17	43099786	missense variant	T/C	snv	2.6E-04	2.9E-04	4
rs55971303	BRCA1	0.851	0.120	17	43104138	missense variant	G/T	snv	1.0E-04	4.2E-05	4
rs10941679		0.763	0.120	5	44706396	intergenic variant	A/G	snv		0.25	11
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10
rs281864525	HBB	0.851	0.280	11	5227097	5 prime UTR variant	T/A;G	snv		7.0E-06	4
rs33931746	HBB	0.807	0.280	11	5227099	5 prime UTR variant	T/C;G	snv			6