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
rs608995	PGR	0.882	0.120	11	101035002	3 prime UTR variant	A/T	snv		0.27	3
rs1456079929	PGR	0.851	0.120	11	101042001	missense variant	C/A	snv	8.0E-06		5
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
rs750042441	PGR ; PGR-AS1	0.827	0.160	11	101128367	missense variant	G/A;C	snv	6.1E-05; 4.3E-06		5
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19
rs759920	DNMT1	0.882	0.120	19	10174102	intron variant	A/G;T	snv			3
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs230521	NFKB1	0.851	0.160	4	102542171	intron variant	C/G	snv		0.59	4
rs4648068	NFKB1	0.790	0.240	4	102597148	intron variant	A/G	snv		0.31	9
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs200182588	SMC2-AS1 ; SMC2	0.827	0.160	9	104094409	5 prime UTR variant	-/GC	ins		7.0E-06	6
rs4925	GSTO1	0.677	0.560	10	104263031	missense variant	C/A	snv	0.25	0.23	28
rs2297235	GSTO2	0.752	0.320	10	104274733	5 prime UTR variant	A/G	snv		0.22	11
rs156697	GSTO2	0.672	0.560	10	104279427	missense variant	A/G;T	snv	0.35		25
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs873330	LOC107984606	0.882	0.120	13	104807897	intergenic variant	A/G	snv		0.31	3
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs869312756	ATM	0.925	0.320	11	108307985	splice donor variant	G/A;T	snv			3
rs638820	GSTM4 ; GSTM2	0.827	0.160	1	109667284	intron variant	G/A	snv		0.52	5
rs186724	AHCYL1	0.882	0.120	1	110018293	intron variant	C/G;T	snv			3
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs11954856	APC	0.732	0.200	5	112751630	intron variant	T/G	snv		0.54	12
rs17561	IL1A	0.672	0.560	2	112779646	missense variant	C/A	snv	0.27	0.26	23