DisGeNET - a database of gene-disease associations

List of associated variants

Benign Prostatic Hyperplasia, C1704272

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2745557	PACERR ; PTGS2	0.807	0.200	1	186680089	intron variant	A/G	snv		0.83	6
rs523349	SRD5A2	0.689	0.440	2	31580636	missense variant	G/A;C;T	snv	0.66; 4.9E-06		21
rs9282858	SRD5A2	0.716	0.320	2	31580756	missense variant	C/T	snv	1.8E-02	2.1E-02	16
rs9332964	SRD5A2	0.763	0.240	2	31529325	missense variant	C/T	snv	4.7E-04	1.6E-04	10
rs12621278	ITGA6	0.790	0.280	2	172446825	intron variant	A/G	snv		4.9E-02	7
rs2556378	BCL11A	1.000	0.040	2	60535367	3 prime UTR variant	T/G	snv		0.81	3
rs12470143	SRD5A2	0.925	0.080	2	31538488	intron variant	C/T	snv		0.42	2
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs1126647	CXCL8	0.827	0.160	4	73743328	3 prime UTR variant	A/T	snv		0.31	8
rs1902023	UGT2B15	0.882	0.080	4	68670366	missense variant	A/C	snv	0.51	0.53	4
rs72551387	UGT2B17	0.882	0.080	4	68568232	missense variant	C/A	snv	5.7E-03	5.7E-03	3
rs36067435	ELOVL6	1.000	0.040	4	110180390	intron variant	-/TTAT	delins			1
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs2011077	FGFR4	0.807	0.080	5	177094455	intron variant	C/T	snv		0.19	8
rs12653946	CTD-2194D22.4	0.882	0.080	5	1895715	intron variant	C/T	snv		0.43	5
rs10054105	STARD4-AS1	0.925	0.080	5	111573636	intron variant	T/G	snv		0.17	3
rs381949	CLPTM1L	1.000	0.040	5	1322353	intron variant	G/A	snv		0.44	3
rs677394	C5orf66	1.000	0.040	5	135271869	intron variant	G/C;T	snv			2
rs10035432	C5orf46	1.000	0.040	5	147855193	upstream gene variant	G/A	snv		0.18	1