DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of mouth, C0153381

Source: ALL

Results per page

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
rs991316	LOC102723576	0.925	0.160	4	99401288	intergenic variant	T/A;C	snv			3
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs334348	TGFBR1	0.851	0.160	9	99150189	3 prime UTR variant	A/G;T	snv			5
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs16914640	CLEC2D	1.000	0.120	12	9669791	missense variant	C/G;T	snv	0.14; 4.0E-06		2
rs2398180	NR2F2-AS1	0.827	0.080	15	96319940	intron variant	C/T	snv		0.62	6
rs1057035	DICER1	0.763	0.440	14	95087805	3 prime UTR variant	T/C	snv		0.26	12
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs578776	CHRNA3	0.742	0.240	15	78596058	3 prime UTR variant	G/A	snv		0.39	13
rs16969968	CHRNA5	0.653	0.360	15	78590583	missense variant	G/A	snv	0.26	0.24	37
rs11545028	WWOX	1.000	0.080	16	78099774	5 prime UTR variant	C/T	snv	0.30	0.28	3
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
rs587782705	TP53	0.807	0.280	17	7675157	missense variant	G/A	snv	8.0E-06		8
rs587778718	TP53	1.000	0.080	17	7674959	missense variant	G/A;C;T	snv	4.0E-06; 1.2E-05; 4.0E-06		2
rs1533767	WNT11	0.851	0.120	11	76194756	splice region variant	G/A	snv	0.27	0.23	5
rs563691424	WNK1	1.000	0.080	12	753860	missense variant	C/T	snv	6.2E-05	2.1E-05	2
rs770140945	CYP1A1	0.882	0.200	15	74720665	missense variant	G/A	snv	4.0E-06	7.0E-06	4