DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma in situ of uterine cervix, C0851140

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
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
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs587782329	TP53	0.677	0.280	17	7674217	missense variant	C/A;G;T	snv			23
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
rs750898115	USO1	0.882	0.080	4	75787191	missense variant	A/G	snv	1.0E-05	3.5E-05	4
rs7082598		1.000	0.040	10	119192212	regulatory region variant	C/T	snv		0.11	3
rs2305809	DMRTC2	1.000	0.040	19	41850561	synonymous variant	C/T	snv		0.40	3
rs2029167	LOC105369777	0.925	0.080	12	54196349	intergenic variant	G/A	snv		0.52	3
rs3087404	LOC105369777 ; SMUG1	0.925	0.080	12	54187830	5 prime UTR variant	T/C	snv		0.47	3
rs11637235	DUT	1.000	0.040	15	48340956	intron variant	C/T	snv		0.54	2
rs1280759302	TAP2	1.000	0.040	6	32829419	missense variant	T/C	snv			2
rs10851465	DUT	1.000	0.040	15	48337687	intron variant	T/C	snv		0.68	1
rs28381106	DUT	1.000	0.040	15	48332799	intron variant	T/G	snv		5.3E-02	1
rs28381126	DUT	1.000	0.040	15	48337916	intron variant	G/T	snv		3.3E-02	1
rs3784619	DUT	1.000	0.040	15	48333741	intron variant	G/A	snv		0.80	1