DisGeNET - a database of gene-disease associations

List of associated variants

Endometrial Carcinoma, C0476089

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
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			32
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06		31
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs1800440	CYP1B1	0.653	0.440	2	38070996	missense variant	T/C;G	snv	0.15; 4.0E-06		29
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs7679673		0.677	0.440	4	105140377	intron variant	C/A	snv		0.50	28
rs4818	COMT ; MIR4761	0.683	0.440	22	19963684	synonymous variant	C/G;T	snv	0.34		27
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs6259	SHBG	0.658	0.400	17	7633209	missense variant	G/A	snv	8.9E-02	8.1E-02	27
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs4633	COMT ; MIR4761	0.695	0.400	22	19962712	synonymous variant	C/T	snv	0.46	0.45	25
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			25
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs1056827	CYP1B1 ; CYP1B1-AS1	0.683	0.400	2	38075034	missense variant	C/A	snv	0.32	0.35	24