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
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
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
rs6504950	STXBP4	0.807	0.120	17	54979110	intron variant	G/A	snv		0.29	7
rs201739205	LOC108783654 ; HSD17B1	0.851	0.200	17	42552898	5 prime UTR variant	A/C	snv	7.8E-03	8.2E-03	5
rs55971303	BRCA1	0.851	0.120	17	43104138	missense variant	G/T	snv	1.0E-04	4.2E-05	4
rs56187033	BRCA1	0.851	0.200	17	43099786	missense variant	T/C	snv	2.6E-04	2.9E-04	4
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
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs999737	RAD51B	0.776	0.200	14	68567965	intron variant	C/T	snv		0.16	8
rs1314913	RAD51B	0.807	0.120	14	68232877	intron variant	C/T	snv		0.13	6
rs2588809	RAD51B	0.807	0.160	14	68193711	intron variant	T/C	snv		0.80	6
rs35036378	ESR2	0.851	0.200	14	64294403	5 prime UTR variant	A/C	snv		7.0E-03	5
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs549591993	F7	0.776	0.400	13	113105794	5 prime UTR variant	C/A	snv	4.0E-04	2.8E-05	12
rs367732974	F7	0.790	0.360	13	113105788	5 prime UTR variant	G/A	snv	8.9E-05	2.8E-05	9
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
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