DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of lung, C0242379

Disease: Malignant neoplasm of ovary

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
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv		0.72	13
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs3760396	CCL2	0.732	0.280	17	34254422	upstream gene variant	G/C	snv		0.15	13
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
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
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
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
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs2180314	GSTA2	0.776	0.200	6	52752933	missense variant	C/G	snv	0.60	0.52	8
rs920778	HOTAIR	0.633	0.480	12	53966448	intron variant	G/A	snv		0.57	36
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv		0.28	22
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31