DisGeNET - a database of gene-disease associations

List of associated variants

Cervix carcinoma, C0302592

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
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13
rs4851527	IL1R2	0.790	0.160	2	102005914	intron variant	A/G	snv		0.63	7
rs719250	IL1R2	0.827	0.200	2	102007256	intron variant	C/T	snv		0.11	5
rs3218896	IL1R2	0.807	0.160	2	102015190	intron variant	T/C;G	snv			6
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs77381814	KLC1 ; XRCC3	0.882	0.080	14	103699410	missense variant	C/T	snv	1.5E-03	5.9E-03	3
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs2255336	LOC101928100 ; KLRK1 ; KLRC4-KLRK1	0.827	0.200	12	10379727	missense variant	T/C	snv	0.81	0.74	5
rs807181	PSMD10 ; ATG4A	0.851	0.120	X	108090354	intron variant	G/C;T	snv			4
rs807183	ATG4A	0.851	0.120	X	108094263	intron variant	G/A	snv		0.51	4
rs2232641	LIG4	0.851	0.160	13	108209297	missense variant	T/C	snv	1.5E-03	5.7E-04	4
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs246079	UNG	0.790	0.120	12	109109255	intron variant	A/G;T	snv			9
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs17561	IL1A	0.672	0.560	2	112779646	missense variant	C/A	snv	0.27	0.26	23
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs1143630	IL1B	0.827	0.160	2	112834078	intron variant	T/A;G	snv			5
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1110839	PAX8-AS1 ; PAX8	0.807	0.120	2	113236840	non coding transcript exon variant	G/A;C;T	snv			6
rs4848320	PAX8 ; PAX8-AS1	0.807	0.120	2	113253214	intron variant	C/G;T	snv			6
rs4570	UTP23 ; RAD21	0.882	0.080	8	116846150	3 prime UTR variant	G/A	snv		0.70	4
rs2289937	RAD21	0.882	0.080	8	116861572	intron variant	G/A;C	snv			4