DisGeNET - a database of gene-disease associations

List of shared variants

Adenocarcinoma of lung (disorder), C0152013

Disease: Carcinoma, Ovarian Epithelial

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
rs3020450	ESR2	0.807	0.200	14	64301584	splice region variant	C/A;T	snv			10
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs7977932	LRRC43 ; IL31	0.763	0.320	12	122172836	intron variant	C/G;T	snv			10
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			20
rs4143815	CD274	0.689	0.400	9	5468257	3 prime UTR variant	G/C	snv		0.23	20
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs11568820	VDR	0.672	0.480	12	47908762	intron variant	C/T	snv		0.38	27
rs238406	ERCC2	0.677	0.480	19	45365051	synonymous variant	T/G	snv	0.58	0.65	23
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214