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
rs549591993	F7	0.776	0.400	13	113105794	5 prime UTR variant	C/A	snv	4.0E-04	2.8E-05	12
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10
rs367732974	F7	0.790	0.360	13	113105788	5 prime UTR variant	G/A	snv	8.9E-05	2.8E-05	9
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
rs183433761	GCG ; LOC101929532	0.851	0.200	2	162152278	5 prime UTR variant	T/C;G	snv			5
rs201739205	LOC108783654 ; HSD17B1	0.851	0.200	17	42552898	5 prime UTR variant	A/C	snv	7.8E-03	8.2E-03	5
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
rs35036378	ESR2	0.851	0.200	14	64294403	5 prime UTR variant	A/C	snv		7.0E-03	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
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
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