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	Num. diseases
rs193920894	SPOP ; LOC107984999	0.925	0.080	17	49619281	missense variant	A/C	snv		2
rs1057519964	LOC107984999 ; SPOP	1.000	0.080	17	49619282	missense variant	A/C	snv		1
rs1057519965	SPOP ; LOC107984999	1.000	0.080	17	49619280	missense variant	G/A;C	snv	8.0E-06	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
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
rs193921065	LOC107984999 ; SPOP	1.000	0.080	17	49619062	missense variant	G/C	snv	4.0E-06	1
rs1057519968	SPOP ; LOC107984999	0.925	0.120	17	49619070	missense variant	A/C;T	snv		2
rs1057519969	LOC107984999 ; SPOP	0.925	0.120	17	49619069	missense variant	C/G	snv		2
rs1057519970	SPOP ; LOC107984999	0.925	0.120	17	49619068	missense variant	C/A	snv		2
rs1057519999	TP53	0.763	0.160	17	7674247	missense variant	T/C;G	snv		12
rs876660807	TP53	0.763	0.160	17	7674248	missense variant	T/C	snv		12
rs1057519938	PIK3CA	0.776	0.160	3	179203764	missense variant	A/C;T	snv		10
rs1057519939	PIK3CA	0.776	0.160	3	179203763	missense variant	A/C	snv		10
rs121913284	PIK3CA	0.776	0.160	3	179203765	missense variant	T/A;G	snv		10
rs1057519947	PPP2R1A	0.790	0.160	19	52212730	missense variant	G/A	snv		9
rs1057519962	SMAD4	0.827	0.160	18	51067035	missense variant	G/A;T	snv		6
rs1057519862	ERBB2	0.851	0.160	17	39723405	missense variant	G/A	snv		5
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv		14
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv		13
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv		11
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv		11
rs1057519912	MED12	0.776	0.200	X	71129408	missense variant	C/G;T	snv		5
rs1057519956	CNOT9	0.827	0.200	2	218583025	missense variant	T/C	snv		5