DisGeNET - a database of gene-disease associations

List of associated variants

Cervical Intraepithelial Neoplasia, C0206708

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs1799987	CCR5AS ; CCR5	0.763	0.200	3	46370444	intron variant	A/G	snv		0.49	10
rs1800023	CCR5 ; CCR5AS	1.000	0.040	3	46370817	intron variant	A/G	snv		0.29	2
rs1800024	CCR5 ; CCR5AS	0.925	0.080	3	46371068	intron variant	C/T	snv		0.13	2
rs1799988	CCR5AS ; CCR5	1.000	0.040	3	46370768	intron variant	C/T	snv		0.49	1
rs2227010	CCR5AS ; CCR5	1.000	0.040	3	46370051	intron variant	G/A	snv		0.63	1
rs2734648	CCR5AS ; CCR5	1.000	0.040	3	46370349	intron variant	G/T	snv		0.36	1
rs11134527	MIR218-2 ; SLIT3	0.677	0.400	5	168768351	intron variant	G/A	snv		0.25	24
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs531564	LINC00599 ; MIR124-1	0.672	0.480	8	9903189	non coding transcript exon variant	G/C	snv		0.14	27
rs4636297	EGFL7 ; MIR126	0.724	0.360	9	136670698	intron variant	A/G	snv	0.67	0.65	14
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs246079	UNG	0.790	0.120	12	109109255	intron variant	A/G;T	snv			9
rs3219218	UNG	0.851	0.120	12	109100430	intron variant	A/G	snv		1.9E-02	4
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
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