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
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs238406	ERCC2	0.677	0.480	19	45365051	synonymous variant	T/G	snv	0.58	0.65	23
rs11954856	APC	0.732	0.200	5	112751630	intron variant	T/G	snv		0.54	12
rs2363956	ANKLE1	0.776	0.160	19	17283315	missense variant	T/G	snv	0.48	0.50	8
rs2708861	HUS1	0.851	0.120	7	47977120	intron variant	T/G	snv		0.46	6
rs7246045	CGB5	0.882	0.120	19	49042825	upstream gene variant	T/G	snv		2.9E-02	5
rs2191249	BRIP1	0.882	0.120	17	61758503	intron variant	T/G	snv		0.79	3
rs1760944	OSGEP ; APEX1	0.672	0.480	14	20454990	non coding transcript exon variant	T/C;G	snv			26
rs3803185	ARL11	0.708	0.320	13	49630889	missense variant	T/C;G	snv	0.39		19
rs587780191	CHEK2	0.882	0.120	22	28699931	missense variant	T/C;G	snv	4.0E-06; 1.6E-05		3
rs879255288	BRCA1	0.882	0.120	17	43094789	missense variant	T/C;G	snv	4.0E-06		3
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs5918	ITGB3	0.683	0.480	17	47283364	missense variant	T/C	snv	0.12	0.13	26
rs2227564	PLAU ; C10orf55	0.763	0.320	10	73913343	missense variant	T/C	snv	0.75	0.81	15
rs1799950	BRCA1	0.752	0.240	17	43094464	missense variant	T/C	snv	4.7E-02	4.6E-02	13
rs11651755	HNF1B	0.763	0.160	17	37739849	intron variant	T/C	snv		0.52	9
rs2660753		0.790	0.240	3	87061524	intergenic variant	T/C	snv		0.76	9