DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Ovarian Epithelial, C4721610

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
rs1002076	KIF1B	0.925	0.120	1	10378834	3 prime UTR variant	G/A	snv		0.33	2
rs7643459	LOC101927394 ; LMCD1-AS1	0.925	0.120	3	7963141	intron variant	G/C;T	snv			2
rs4525119	LOC107984198 ; AKR1C3	0.925	0.120	10	5049762	intron variant	C/T	snv		0.30	2
rs753461846	MAD1L1	0.925	0.120	7	1898249	missense variant	C/A;G;T	snv	4.0E-06; 2.8E-05		2
rs76032516	MAML2	0.925	0.120	11	96097550	intron variant	A/C;T	snv			2
rs1596797	MUC16	0.925	0.120	19	8977341	missense variant	T/A;C;G	snv	2.0E-05; 4.0E-06; 0.74		2
rs146314922	NLRP2	0.925	0.120	19	54982828	missense variant	A/G	snv			2
rs11696662	PLCG1	0.925	0.120	20	41161795	intron variant	C/T	snv		4.4E-02	2
rs2803073	PRKN	0.925	0.120	6	162541796	intron variant	G/A	snv		0.74	2
rs17106154	RAD51B	0.925	0.120	14	68694457	non coding transcript exon variant	T/C	snv		7.8E-02	2
rs1057156	RUVBL1	0.925	0.120	3	128081228	3 prime UTR variant	A/G	snv	0.22	0.23	2
rs149652370	RUVBL1	0.925	0.120	3	128084115	non coding transcript exon variant	A/G	snv		1.3E-04	2
rs372150314	SHMT1	0.925	0.120	17	18347596	missense variant	C/A;T	snv	4.0E-06		2
rs11175194	SRGAP1	0.925	0.120	12	63871057	intron variant	G/A	snv		0.15	2
rs3087714	SULF1	0.925	0.120	8	69660769	3 prime UTR variant	G/A	snv		0.30	2
rs17329882	SYNPO2	0.925	0.120	4	119028805	intron variant	A/C;T	snv			2
rs237028	TAB2	0.925	0.120	6	149397514	intron variant	C/T	snv		0.58	2
rs17250239	TRAF2	0.925	0.120	9	136902178	non coding transcript exon variant	G/A	snv		7.2E-02	2
rs10017134	UGT2A2 ; UGT2A1	0.925	0.120	4	69591303	intron variant	T/C	snv		0.75	2
rs7305032	VDR	0.925	0.120	12	47856077	intron variant	G/A	snv		0.61	2
rs4954956		0.882	0.120	2	138787007	regulatory region variant	C/T	snv		0.25	3
rs7365052		0.882	0.120	1	236786561	intergenic variant	T/C	snv			3
rs7748275		0.882	0.120	6	3580855	downstream gene variant	T/A	snv		8.2E-02	3
rs35068177	ABCB1	0.882	0.120	7	87550213	synonymous variant	T/C	snv	2.2E-04	3.1E-04	3
rs186724	AHCYL1	0.882	0.120	1	110018293	intron variant	C/G;T	snv			3