DisGeNET - a database of gene-disease associations

List of associated variants

Malignant tumor of cervix, C0007847

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
rs8179	CDK6	0.882	0.080	7	92606850	3 prime UTR variant	T/A;C;G	snv			8
rs1042725	HMGA2	0.882	0.080	12	65964567	3 prime UTR variant	C/T	snv		0.48	7
rs2566	LAMB3	0.882	0.080	1	209615169	3 prime UTR variant	G/A	snv		0.27	6
rs10802996	EXO1	0.882	0.080	1	241847325	upstream gene variant	C/A;G	snv			5
rs10893506	ST3GAL4	0.882	0.080	11	126406065	5 prime UTR variant	T/A;C	snv	6.4E-06; 0.41		5
rs11568785	TGFBR1	0.882	0.080	9	99143552	intron variant	A/G;T	snv		7.2E-02	5
rs42033	CDK6	0.882	0.080	7	92608219	3 prime UTR variant	A/T	snv		0.16	5
rs1007541	FSHR	0.882	0.080	2	48981895	intron variant	C/T	snv		0.16	4
rs1474348	IL6-AS1 ; IL6	0.882	0.080	7	22728289	intron variant	C/G	snv		0.71	4
rs16970849	TMC8	0.882	0.080	17	78137827	intron variant	G/A;T	snv	0.11; 4.0E-06		4
rs2289937	RAD21	0.882	0.080	8	116861572	intron variant	G/A;C	snv			4
rs2290907	TNRC6C	0.882	0.080	17	78097596	intron variant	T/C	snv		0.23	4
rs4570	UTP23 ; RAD21	0.882	0.080	8	116846150	3 prime UTR variant	G/A	snv		0.70	4
rs4579555	RAD21	0.882	0.080	8	116867092	intron variant	A/G	snv			4
rs673	TNF	0.882	0.080	6	31575318	upstream gene variant	G/A	snv		1.8E-02	4
rs1003897973	LOC107985302 ; TRIP10	0.882	0.080	19	6746039	missense variant	C/G	snv			3
rs1030389	SNHG14 ; PWAR6	0.882	0.080	15	25032641	non coding transcript exon variant	A/G	snv		0.41	3
rs10426502	MYDGF ; TNFAIP8L1	0.882	0.080	19	4651257	intron variant	G/A	snv		6.8E-02	3
rs1045935	PWAR6 ; SNHG14	0.882	0.080	15	25036439	non coding transcript exon variant	G/A;T	snv			3
rs1048512	PIGM ; KCNJ10	0.882	0.080	1	160025108	3 prime UTR variant	G/A;T	snv		0.13	3
rs1060555	TNFAIP8L1 ; MYDGF	0.882	0.080	19	4652810	3 prime UTR variant	C/G;T	snv			3
rs10815144	JAK2 ; INSL6	0.882	0.080	9	5010192	intron variant	G/A	snv		0.62	3
rs11079454	BRIP1	0.882	0.080	17	61679808	3 prime UTR variant	T/A;C	snv			3
rs11202058	WAPL	0.882	0.080	10	86522854	non coding transcript exon variant	G/A	snv		0.25	3
rs1195571		0.882	0.080	12	130739483	intergenic variant	T/C	snv		0.97	3