DisGeNET - a database of gene-disease associations

List of associated variants

Lip and Oral Cavity Carcinoma, C0220641

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
rs10090787	LOC107986874 ; SNTB1	1.000	0.080	8	120798309	intron variant	C/T	snv		0.34	3
rs10399805	CHI3L1	0.851	0.240	1	203186870	upstream gene variant	G/A;T	snv			7
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045487	CASP8	1.000	0.080	2	201284973	synonymous variant	G/A	snv	9.5E-02	0.10	2
rs1047781	LOC105447645 ; FUT2	0.790	0.200	19	48703374	missense variant	A/T	snv	3.6E-02	1.2E-02	11
rs1047840	EXO1	0.708	0.280	1	241878999	missense variant	G/A	snv	0.36	0.40	19
rs1047972	AURKA	0.716	0.240	20	56386407	missense variant	T/C	snv	0.85	0.84	19
rs1048638	CA9	0.807	0.160	9	35681125	3 prime UTR variant	C/A;G	snv			10
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1057035	DICER1	0.763	0.440	14	95087805	3 prime UTR variant	T/C	snv		0.26	12
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs10900598	MDM4	0.882	0.120	1	204556440	3 prime UTR variant	G/C;T	snv		0.38	4
rs10972727	RECK	0.882	0.200	9	36110066	synonymous variant	T/A	snv	0.32	0.28	4
rs11130760	FHIT	1.000	0.080	3	60210809	intron variant	G/T	snv		0.12	2
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs11545028	WWOX	1.000	0.080	16	78099774	5 prime UTR variant	C/T	snv	0.30	0.28	3
rs11685387	XRCC5	0.776	0.240	2	216109091	splice region variant	C/T	snv		0.30	9
rs11788747	RECK	0.851	0.240	9	36105267	synonymous variant	A/C;G	snv	4.0E-06; 0.34		6
rs11801299	LOC105371692	0.807	0.200	1	204559956	downstream gene variant	G/A	snv		0.16	9
rs1208415127	RASSF1	0.827	0.160	3	50331654	missense variant	G/A	snv	4.0E-06		6
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614