DisGeNET - a database of gene-disease associations

List of associated variants

Human papilloma virus infection, C0343641

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
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs5743836	TLR9	0.658	0.440	3	52226766	intron variant	A/G	snv		0.20	31
rs8305	POLI	0.882	0.120	18	54294435	missense variant	G/A	snv	0.72	0.78	4
rs535915558	PMEL	0.827	0.120	12	55958494	missense variant	C/T	snv	2.0E-05		6
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs311678	CGAS	1.000	0.040	6	73425293	synonymous variant	C/T	snv	0.71	0.72	2
rs17102999	MLH3	0.925	0.120	14	75046831	missense variant	G/A	snv	1.3E-02	9.8E-03	2
rs175080	MLH3	0.776	0.240	14	75047125	missense variant	G/A	snv	0.40	0.43	9
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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
rs7208422	TMC8	0.807	0.120	17	78134494	missense variant	A/C;T	snv	4.0E-06; 0.51		6
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs3087399	REV1	0.882	0.120	2	99438696	missense variant	T/C	snv	0.13	0.17	4
rs3087386	REV1	0.790	0.160	2	99439044	missense variant	A/G	snv	0.58	0.61	8