DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of prostate, C0376358

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
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			20
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		18
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs72653772	ABCC6	0.807	0.320	16	16190246	missense variant	C/T	snv	8.4E-05	1.1E-04	16
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs863224909	PTEN	0.732	0.360	10	87960952	stop gained	C/A;G	snv			14
rs28939702	ABCC6	0.851	0.320	16	16154899	missense variant	G/A;T	snv	8.2E-05		13
rs370795352	PTEN	0.742	0.360	10	87933163	missense variant	T/A;C	snv	4.0E-06		13
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	12
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			12
rs80359200	BRCA2	0.752	0.320	13	32394726	stop gained	C/A;G	snv	8.0E-06		12
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs1224040268	PTEN	0.742	0.360	10	87931091	splice donor variant	T/A;C	snv		7.0E-06	12
rs28897756	BRCA2	0.752	0.440	13	32379913	splice region variant	G/A;C;T	snv	4.0E-06		11
rs80358435	BRCA2	0.752	0.440	13	32319154	stop gained	G/C;T	snv	4.0E-06; 4.0E-06		11
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		11
rs80358814	BRCA2	0.742	0.440	13	32340212	stop gained	G/T	snv	8.0E-06		11
rs80358972	BRCA2	0.742	0.480	13	32356472	stop gained	C/A;T	snv	8.0E-06; 3.2E-05		11
rs80359212	BRCA2	0.763	0.320	13	32394814	stop gained	C/T	snv	1.2E-05	4.2E-05	11
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv			11
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	11
rs1057520005	TP53	0.742	0.360	17	7673800	missense variant	C/A;G	snv			11