DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Ovarian Epithelial, C4721610

Source: ALL

Results per page

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			20
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs10260419	THSD7A	0.882	0.120	7	11524758	intron variant	C/G	snv		0.26	3
rs1467465	THEMIS2	0.827	0.160	1	27884892	non coding transcript exon variant	A/G	snv		0.61	7
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs2228026	TEP1	0.882	0.120	14	20395890	synonymous variant	A/G	snv	4.7E-02	3.8E-02	3
rs237028	TAB2	0.925	0.120	6	149397514	intron variant	C/T	snv		0.58	2
rs17329882	SYNPO2	0.925	0.120	4	119028805	intron variant	A/C;T	snv			2
rs3087714	SULF1	0.925	0.120	8	69660769	3 prime UTR variant	G/A	snv		0.30	2
rs121913322	STK11	0.882	0.120	19	1221320	missense variant	C/A;G;T	snv	2.9E-05; 1.2E-04		4
rs11175194	SRGAP1	0.925	0.120	12	63871057	intron variant	G/A	snv		0.15	2
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06		51
rs200182588	SMC2-AS1 ; SMC2	0.827	0.160	9	104094409	5 prime UTR variant	-/GC	ins		7.0E-06	6
rs755378873	SLC13A5	0.851	0.120	17	6694197	missense variant	C/A;T	snv	4.0E-06		5
rs9909104	SHMT1	0.882	0.200	17	18344707	intron variant	T/C	snv		0.30	4
rs372150314	SHMT1	0.925	0.120	17	18347596	missense variant	C/A;T	snv	4.0E-06		2
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
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
rs1057156	RUVBL1	0.925	0.120	3	128081228	3 prime UTR variant	A/G	snv	0.22	0.23	2
rs149652370	RUVBL1	0.925	0.120	3	128084115	non coding transcript exon variant	A/G	snv		1.3E-04	2