DisGeNET - a database of gene-disease associations

List of associated variants

Mammary Neoplasms, C1458155

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
rs121913289	PTEN	1.000	0.080	10	87958013	frameshift variant	A/-	delins			4
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs1057519724	PTEN	1.000	0.080	10	87933236	missense variant	G/A;T	snv			3
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs121913292	PTEN	1.000	0.080	10	87933148	frameshift variant	G/-	del			2
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25
rs57374291	PTEN	1.000	0.080	10	87933078	missense variant	G/A;T	snv			2
rs1554897879	PTEN			10	87931085	stop gained	C/A	snv			1
rs228648	UTS2	0.776	0.360	1	7853370	missense variant	G/A	snv	0.51	0.52	13
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs11540654	TP53	0.925	0.200	17	7676040	missense variant	C/A;G;T	snv	4.8E-05		4
rs1057519997	TP53	0.776	0.320	17	7676037	missense variant	A/C;G;T	snv			9
rs1057520003	TP53	0.695	0.320	17	7675996	missense variant	T/G	snv			20
rs786201057	TP53	0.677	0.400	17	7675995	missense variant	G/A;C;T	snv			24
rs747342068	TP53	0.695	0.440	17	7675218	missense variant	T/C;G	snv	4.0E-06		21
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv			19
rs866775781	TP53	0.716	0.440	17	7675216	splice acceptor variant	C/A;G	snv			17
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			34
rs587781991	TP53	0.724	0.240	17	7675208	missense variant	C/A;T	snv			17
rs1057519978	TP53	0.763	0.360	17	7675191	missense variant	A/C;G;T	snv			12
rs1555526250	TP53			17	7675191	frameshift variant	-/GGTCT	delins			1
rs587781288	TP53	0.732	0.440	17	7675190	missense variant	C/A;T	snv			16