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
rs351771	APC	0.882	0.120	5	112828864	synonymous variant	G/A	snv	0.65	0.59	3
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs459552	APC	0.752	0.320	5	112841059	missense variant	T/A;G	snv	0.79		14
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
rs1800449	LOX	0.641	0.400	5	122077513	missense variant	C/A;T	snv	4.0E-06; 0.17		33
rs121913322	STK11	0.882	0.120	19	1221320	missense variant	C/A;G;T	snv	2.9E-05; 1.2E-04		4
rs17251221	CASR	0.724	0.360	3	122274400	intron variant	A/G	snv		0.11	18
rs2066827	GPR19 ; CDKN1B	0.695	0.320	12	12718165	missense variant	T/A;C;G	snv	1.6E-04; 1.6E-05; 0.26		21
rs13281615	CASC8 ; POU5F1B ; PCAT1 ; CASC21	0.716	0.360	8	127343372	intron variant	A/G	snv		0.43	18
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs13063604	RUVBL1	0.882	0.120	3	128085887	intron variant	G/A	snv		0.23	3
rs7650365	RUVBL1	0.882	0.120	3	128115160	intron variant	G/A	snv		0.35	3
rs1516982	LINC00824	0.882	0.120	8	128521400	intron variant	A/G	snv		0.16	3
rs10088218	LINC00824	0.851	0.120	8	128531703	intron variant	G/A	snv		0.13	4
rs10098821	LINC00824	0.882	0.120	8	128546982	intron variant	C/T	snv		7.6E-02	3
rs9375701	L3MBTL3	0.827	0.160	6	130062912	intron variant	C/T	snv		0.53	6
rs137852691	OPCML	0.925	0.120	11	132657203	missense variant	G/A;C	snv	8.0E-06		2
rs185229225	BOD1L1	0.851	0.120	4	13607505	intron variant	T/C	snv			4