DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of ovary, C1140680

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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	16
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		11
rs74315464	ARSA	0.882	0.120	22	50627048	missense variant	G/A;C	snv			4
rs1805129	CHEK2	0.882	0.120	22	28734470	synonymous variant	T/C	snv	3.6E-02	4.0E-02	3
rs587780191	CHEK2	0.882	0.120	22	28699931	missense variant	T/C;G	snv	4.0E-06; 1.6E-05		3
rs751039340	ARSA	0.882	0.120	22	50625459	missense variant	C/A	snv	4.2E-06		3
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs2424913	DNMT3B	0.708	0.440	20	32786453	intron variant	C/T	snv	0.56	0.53	18
rs2424932	DNMT3B	0.827	0.200	20	32808730	3 prime UTR variant	A/G;T	snv			5
rs67164370	RASSF2	0.851	0.120	20	4787830	intron variant	-/AGGGACT	ins			4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs238406	ERCC2	0.677	0.480	19	45365051	synonymous variant	T/G	snv	0.58	0.65	23
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs8170	BABAM1 ; USHBP1	0.724	0.160	19	17278895	synonymous variant	G/A	snv	0.15	0.18	13
rs2363956	ANKLE1	0.776	0.160	19	17283315	missense variant	T/G	snv	0.48	0.50	8
rs1469713	GATAD2A	0.827	0.160	19	19417997	intron variant	A/G	snv		0.44	7
rs540432391	CGB5	0.882	0.120	19	49043993	5 prime UTR variant	G/A;C	snv			5
rs67397200		0.827	0.160	19	17290595	upstream gene variant	C/G	snv		0.27	5