DisGeNET - a database of gene-disease associations

List of associated variants

Prostate cancer, familial, C2931456

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
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	24
rs34301344	ARL11	0.689	0.400	13	49630893	stop gained	G/A	snv	9.7E-03	7.9E-03	22
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs755100942	ARL11	0.724	0.320	13	49630894	stop gained	G/A	snv	4.2E-06		17
rs536562413	FBXO11 ; MSH6	0.732	0.240	2	47799934	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs74315364	RNASEL	0.732	0.200	1	182586014	stop gained	C/A	snv	3.6E-03; 4.0E-06	3.3E-03	13
rs627928	RNASEL	0.790	0.080	1	182582202	missense variant	A/C	snv	0.54	0.49	10
rs4242382		0.763	0.240	8	127505328	intergenic variant	A/G;T	snv			9
rs4792311	ELAC2	0.776	0.160	17	13011692	missense variant	G/A;C	snv	0.27		9
rs10486567	JAZF1	0.851	0.120	7	27936944	intron variant	G/A	snv		0.28	9
rs137852593	AR	0.827	0.160	X	67717484	missense variant	G/A;C;T	snv	2.2E-05; 1.1E-05; 9.1E-04		8
rs5030739	ELAC2	0.776	0.160	17	12996585	missense variant	C/T	snv	3.5E-02	2.9E-02	8
rs2645429	FDFT1 ; LOC105379243	0.790	0.120	8	11802542	non coding transcript exon variant	A/G;T	snv			7
rs117251022	ARL11	0.827	0.120	13	49630641	missense variant	G/A;C;T	snv	8.8E-05; 1.9E-03		5
rs1374051619	ELAC2	0.827	0.080	17	12995026	missense variant	C/G	snv	4.0E-06		5
rs35831931	MLH1	0.882	0.120	3	37050528	missense variant	G/A;T	snv	1.2E-03; 2.0E-05		4
rs63750109	MLH1	0.882	0.120	3	37048559	missense variant	G/A;T	snv	1.1E-04; 4.0E-06		3
rs1114167843	MSH2	0.882	0.120	2	47478396	missense variant	A/C;G	snv			3
rs78105154	ELAC2	0.925	0.080	17	12994991	missense variant	G/A	snv	3.2E-04	7.0E-05	2