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
rs1195571		0.882	0.080	12	130739483	intergenic variant	T/C	snv		0.97	3
rs180082		0.882	0.080	17	69955727	intergenic variant	C/G;T	snv			3
rs9302648	AKTIP	0.882	0.080	16	53493869	non coding transcript exon variant	G/T	snv		0.54	3
rs5757465	APOBEC3G	0.882	0.080	22	39081118	synonymous variant	T/C	snv	0.37	0.31	3
rs3744935	BCL2	0.882	0.080	18	63127447	3 prime UTR variant	C/T	snv		6.0E-03	3
rs11079454	BRIP1	0.882	0.080	17	61679808	3 prime UTR variant	T/A;C	snv			3
rs16945692	BRIP1	0.882	0.080	17	61862883	intron variant	A/G	snv		0.17	3
rs42032	CDK6	0.882	0.080	7	92608112	3 prime UTR variant	G/A	snv		0.28	3
rs4777498	CELF6	0.882	0.080	15	72285731	3 prime UTR variant	C/A	snv		0.74	3
rs17885289	CXCL12	0.882	0.080	10	44386212	non coding transcript exon variant	C/T	snv		0.26	3
rs266093	CXCL12	0.882	0.080	10	44370760	3 prime UTR variant	C/G;T	snv			3
rs3213172	E2F1	0.882	0.080	20	33677511	missense variant	C/T	snv	2.4E-05	2.1E-05	3
rs2862833	FAS	0.882	0.080	10	89015872	3 prime UTR variant	A/G	snv		0.45	3
rs9513111	FLT1	0.882	0.080	13	28423426	intron variant	C/T	snv		0.75	3
rs281860374	HLA-B ; HLA-C	0.882	0.080	6	31271730	missense variant	G/C	snv			3
rs3117027	HLA-DPB2	0.882	0.080	6	33121846	intron variant	C/A;G	snv			3
rs9272143	HLA-DQA1	0.882	0.080	6	32633026	intron variant	T/C	snv		0.49	3
rs12349785	INSL6 ; JAK2	0.882	0.080	9	5076613	intron variant	G/C	snv		0.23	3
rs10815144	JAK2 ; INSL6	0.882	0.080	9	5010192	intron variant	G/A	snv		0.62	3
rs77381814	KLC1 ; XRCC3	0.882	0.080	14	103699410	missense variant	C/T	snv	1.5E-03	5.9E-03	3
rs4604006	LOC105377555 ; VEGFC	0.882	0.080	4	176687621	intron variant	T/C	snv		0.58	3
rs1003897973	LOC107985302 ; TRIP10	0.882	0.080	19	6746039	missense variant	C/G	snv			3
rs67841474	MICA	0.882	0.080	6	31412384	frameshift variant	G/-;GG	delins	0.21	0.19	3
rs10426502	MYDGF ; TNFAIP8L1	0.882	0.080	19	4651257	intron variant	G/A	snv		6.8E-02	3
rs1048512	PIGM ; KCNJ10	0.882	0.080	1	160025108	3 prime UTR variant	G/A;T	snv		0.13	3