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
rs8037137	RCCD1	0.807	0.160	15	90963407	upstream gene variant	T/C	snv		0.19	8
rs764918809	MDM2	0.827	0.160	12	68839337	missense variant	T/C	snv	4.0E-06		6
rs3814113		0.827	0.200	9	16915023	upstream gene variant	T/C	snv		0.41	5
rs3923087	AXIN2	0.827	0.160	17	65553143	intron variant	T/C	snv		0.58	5
rs185229225	BOD1L1	0.851	0.120	4	13607505	intron variant	T/C	snv			4
rs6443626	PIK3CA ; KCNMB3	0.851	0.200	3	179237995	3 prime UTR variant	T/C	snv		0.24	4
rs147961867	MAPK3	0.882	0.120	16	30121998	missense variant	T/C	snv	5.6E-05	2.8E-05	3
rs1805129	CHEK2	0.882	0.120	22	28734470	synonymous variant	T/C	snv	3.6E-02	4.0E-02	3
rs35068177	ABCB1	0.882	0.120	7	87550213	synonymous variant	T/C	snv	2.2E-04	3.1E-04	3
rs4320932	IGF2 ; INS-IGF2	0.882	0.120	11	2150371	intron variant	T/C	snv		0.19	3
rs7365052		0.882	0.120	1	236786561	intergenic variant	T/C	snv			3
rs34289250	BRIP1	0.925	0.120	17	61803285	intron variant	T/C	snv		7.8E-03	2
rs41293521	BRCA2	0.925	0.160	13	32394724	missense variant	T/C	snv	2.9E-04	2.5E-04	2
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs459552	APC	0.752	0.320	5	112841059	missense variant	T/A;G	snv	0.79		14
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
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
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		11
rs4961501	BNC2	1.000	0.120	9	16851680	intron variant	T/A;C;G	snv			1
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs1046428	GSTZ1	0.776	0.200	14	77327940	missense variant	T/A;C	snv	4.0E-06; 0.81		8
rs6886	CAPG	0.925	0.160	2	85394936	missense variant	T/A;C	snv	0.58		4