DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of mouth, C0153381

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
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs135745		0.763	0.200	22	38287631	downstream gene variant	G/C	snv		0.48	13
rs11801299	LOC105371692	0.807	0.200	1	204559956	downstream gene variant	G/A	snv		0.16	9
rs1800628		0.827	0.080	6	31579073	downstream gene variant	G/A	snv		7.3E-02	6
rs221236		1.000	0.120	7	157529938	downstream gene variant	G/A	snv		0.96	2
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs3754093	EXO1	0.776	0.240	1	241846814	upstream gene variant	A/G	snv		0.23	11
rs10399805	CHI3L1	0.851	0.240	1	203186870	upstream gene variant	G/A;T	snv			7
rs6691378	CHI3L1	0.882	0.160	1	203187994	upstream gene variant	G/A	snv		0.19	6
rs708111		0.882	0.120	1	228003664	upstream gene variant	G/A	snv		0.48	4
rs511044	CASP5	0.925	0.120	11	105024783	upstream gene variant	T/C	snv			3
rs7834169		0.925	0.120	8	27052774	upstream gene variant	C/G	snv		0.16	3
rs17071138	SERPINB5	1.000	0.080	18	63476675	upstream gene variant	T/C	snv		2.9E-02	2
rs2040639	XRCC2	1.000	0.080	7	152678103	upstream gene variant	T/C;G	snv			2
rs9344	CCND1	0.653	0.480	11	69648142	splice region variant	G/A	snv	0.45	0.39	34
rs11685387	XRCC5	0.776	0.240	2	216109091	splice region variant	C/T	snv		0.30	9
rs1533767	WNT11	0.851	0.120	11	76194756	splice region variant	G/A	snv	0.27	0.23	5
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214