DisGeNET - a database of gene-disease associations

List of associated variants

ovarian neoplasm, C0919267

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
rs1565499148	ATM ; C11orf65	1.000	0.120	11	108315904	frameshift variant	-/T	delins			1
rs587781894	ATM ; C11orf65	0.882	0.360	11	108365360	missense variant	G/A;C	snv	8.0E-06	7.0E-06	4
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
rs2165109	MIR4435-2HG ; ACOXL	0.925	0.120	2	111061081	intron variant	A/C	snv		0.25	2
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
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
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
rs10260419	THSD7A	0.882	0.120	7	11524758	intron variant	C/G	snv		0.26	3
rs6134303		1.000	0.120	20	11586401	intergenic variant	T/G	snv		0.67	1
rs1791890	LOC107984393	1.000	0.120	11	116120763	intergenic variant	A/G	snv		0.44	1
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
rs145022376	ADARB2 ; LINC00200	1.000	0.120	10	1186289	intron variant	C/-	delins		9.1E-03	1
rs12031579		1.000	0.120	1	119307920	intron variant	G/A	snv		6.8E-02	1
rs66696671		1.000	0.120	10	119607441	intergenic variant	G/T	snv		0.25	1
rs7953249	HNF1A-AS1	0.882	0.160	12	120965921	splice region variant	G/A	snv		0.59	4
rs11200014	FGFR2	0.695	0.280	10	121575416	intron variant	G/A;T	snv		0.34	19
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21