DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Ovarian Epithelial, C4721610

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
rs121964872	CDH1	0.882	0.120	16	68833362	missense variant	A/G	snv	4.4E-05	1.1E-04	3
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs12373237	LAMA3	0.851	0.200	18	23845972	intron variant	G/A	snv		0.47	5
rs1243180	MLLT10	0.790	0.160	10	21626690	intron variant	T/A	snv		0.23	7
rs1256030	ESR2	0.827	0.240	14	64280452	intron variant	A/G;T	snv			6
rs1256031	ESR2	0.790	0.200	14	64279461	intron variant	G/A;T	snv		0.57	9
rs1265794840	ERCC2	0.851	0.160	19	45365131	missense variant	C/T	snv		7.0E-06	6
rs1271572	ESR2	0.708	0.400	14	64295199	intron variant	A/C;T	snv			16
rs12921862	AXIN1	0.763	0.200	16	331927	intron variant	C/A	snv		0.18	10
rs13063604	RUVBL1	0.882	0.120	3	128085887	intron variant	G/A	snv		0.23	3
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs13281615	CASC8 ; POU5F1B ; PCAT1 ; CASC21	0.716	0.360	8	127343372	intron variant	A/G	snv		0.43	18
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	16
rs1413299	COL15A1	0.925	0.120	9	98998959	intron variant	G/A;T	snv			2
rs142091544		0.925	0.120	5	168286995	upstream gene variant	C/T	snv		2.1E-02	2
rs1444192401	KRT7	0.882	0.120	12	52235347	missense variant	G/A	snv			4
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs1456079929	PGR	0.851	0.120	11	101042001	missense variant	C/A	snv	8.0E-06		5
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs146314922	NLRP2	0.925	0.120	19	54982828	missense variant	A/G	snv			2
rs1467465	THEMIS2	0.827	0.160	1	27884892	non coding transcript exon variant	A/G	snv		0.61	7
rs1469713	GATAD2A	0.827	0.160	19	19417997	intron variant	A/G	snv		0.44	7
rs147961867	MAPK3	0.882	0.120	16	30121998	missense variant	T/C	snv	5.6E-05	2.8E-05	3
rs149652370	RUVBL1	0.925	0.120	3	128084115	non coding transcript exon variant	A/G	snv		1.3E-04	2