DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Ovarian Epithelial, C4721610

Source: ALL

Results per page

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
rs1127313	ADAR ; CHRNB2	1.000	0.120	1	154583949	3 prime UTR variant	G/A	snv		0.41	1
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs1045485	CASP8	0.637	0.480	2	201284866	missense variant	G/A;C;T	snv	4.0E-06; 9.0E-02		34
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs2227982	LOC105373977 ; PDCD1	0.677	0.480	2	241851281	missense variant	G/A	snv	9.2E-02	4.3E-02	24
rs17561	IL1A	0.672	0.560	2	112779646	missense variant	C/A	snv	0.27	0.26	23
rs6166	FSHR	0.708	0.240	2	48962782	missense variant	C/T	snv	0.57	0.57	17
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs2303428	MSH2	0.776	0.240	2	47476361	splice region variant	T/A;C;G	snv	4.0E-06; 0.12		9
rs267607911	MSH2	0.851	0.200	2	47403192	start lost	A/C;G;T	snv	5.1E-05; 1.4E-05		8
rs1836724	ERBB4	0.807	0.240	2	211380227	3 prime UTR variant	G/A	snv		0.57	6
rs2072590	HAGLR ; HAGLROS	0.851	0.120	2	176177905	non coding transcript exon variant	A/C;T	snv			4
rs11683487	NMI	0.882	0.120	2	151286035	intron variant	G/T	snv		0.36	3
rs4954956		0.882	0.120	2	138787007	regulatory region variant	C/T	snv		0.25	3
rs6704688	CASP8	0.882	0.160	2	201241309	non coding transcript exon variant	C/A;T	snv			3
rs74917072	UBE2F ; UBE2F-SCLY	0.882	0.120	2	238022053	intron variant	G/A;T	snv			3
rs1983383	CAPN13	0.925	0.120	2	30754766	intron variant	C/A	snv		0.39	2
rs3769827	CASP8	0.925	0.120	2	201237962	intron variant	A/G	snv		0.42	2
rs7572644	BABAM2	0.925	0.120	2	28097166	intron variant	T/C	snv		0.21	2
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60