DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma of prostate, C0007112

Source: CLINVAR ×

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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
rs1057519964	LOC107984999 ; SPOP	1.000	0.080	17	49619282	missense variant	A/C	snv			1
rs1057519966	LOC107984999 ; SPOP	0.882	0.080	17	49619064	missense variant	A/C;T	snv			1
rs1057519967	LOC107984999 ; SPOP	1.000	0.080	17	49619063	missense variant	A/C;G	snv			1
rs193921065	LOC107984999 ; SPOP	1.000	0.080	17	49619062	missense variant	G/C	snv	4.0E-06		1
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	1
rs1057519965	SPOP ; LOC107984999	1.000	0.080	17	49619280	missense variant	G/A;C	snv	8.0E-06		1
rs1057519971	SPOP ; LOC107984999	1.000	0.080	17	49619326	missense variant	T/C;G	snv			1
rs1057519972	SPOP ; LOC107984999	0.882	0.080	17	49619327	missense variant	A/T	snv			1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs1057519969	LOC107984999 ; SPOP	0.925	0.120	17	49619069	missense variant	C/G	snv			2
rs1057519968	SPOP ; LOC107984999	0.925	0.120	17	49619070	missense variant	A/C;T	snv			2
rs1057519970	SPOP ; LOC107984999	0.925	0.120	17	49619068	missense variant	C/A	snv			2
rs193920894	SPOP ; LOC107984999	0.925	0.080	17	49619281	missense variant	A/C	snv			2
rs1057519956	CNOT9	0.827	0.200	2	218583025	missense variant	T/C	snv			5
rs1057519957	CNOT9	0.827	0.200	2	218583026	missense variant	C/G	snv			5
rs1057519862	ERBB2	0.851	0.160	17	39723405	missense variant	G/A	snv			5
rs1057519912	MED12	0.776	0.200	X	71129408	missense variant	C/G;T	snv			5
rs1057520009	XPO1	0.790	0.200	2	61492337	missense variant	C/T	snv	4.4E-06		5
rs1057520010	XPO1	0.882	0.200	2	61492336	missense variant	T/A;G	snv			5
rs121913366	BRAF	0.763	0.400	7	140753345	missense variant	A/C;T	snv			6
rs1057519909	MAP2K1	0.790	0.240	15	66435116	missense variant	A/C	snv			6
rs1057519962	SMAD4	0.827	0.160	18	51067035	missense variant	G/A;T	snv			6
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		7
rs121912580	SMAD4	0.807	0.280	18	51067036	missense variant	G/A;C;T	snv			7