DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of prostate, C0376358

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs200182588	SMC2-AS1 ; SMC2	0.827	0.160	9	104094409	5 prime UTR variant	-/GC	ins		7.0E-06	6
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del			11
rs776941569	CTSB	0.851	0.160	8	11853378	frameshift variant	AG/-	del	1.6E-04	1.5E-04	6
rs1353855643	ELAC2	0.925	0.080	17	13000197	frameshift variant	T/-	del	4.0E-06		2
rs866195758	TLR10	0.925	0.080	4	38774477	frameshift variant	GCAGTTGGAT/-	del			2
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs3917887	CCL2	0.776	0.240	17	34255979	non coding transcript exon variant	AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC	delins		0.33	8
rs80359584	BRCA2	0.807	0.280	13	32340757	frameshift variant	CTTAA/-	delins	4.2E-06	1.4E-05	8
rs6147150	ERBB4	0.827	0.160	2	211380365	3 prime UTR variant	-/AAAATAGGATTG	delins			5
rs80359328	BRCA2	0.882	0.240	13	32336684	frameshift variant	-/A	delins			4
rs80359540	BRCA2	0.925	0.080	13	32340176	frameshift variant	A/-	delins			3
rs17884057	SOD1	0.925	0.080	21	31664502	intron variant	AGA/-	delins		0.13	2
rs4646284	SLC22A1	0.925	0.080	6	160160511	downstream gene variant	-/G	delins		0.31	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262