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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs10889677	IL23R	0.627	0.720	1	67259437	3 prime UTR variant	C/A	snv		0.27	40
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs1047840	EXO1	0.708	0.280	1	241878999	missense variant	G/A	snv	0.36	0.40	19
rs9350	EXO1	0.742	0.240	1	241885372	missense variant	C/T	snv	0.21	0.19	16
rs642961		0.732	0.440	1	209815925	intergenic variant	A/G	snv		0.84	14
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv		0.72	13
rs3754093	EXO1	0.776	0.240	1	241846814	upstream gene variant	A/G	snv		0.23	11
rs1380576	MDM4	0.763	0.240	1	204519150	intron variant	G/C	snv		0.57	10
rs11801299	LOC105371692	0.807	0.200	1	204559956	downstream gene variant	G/A	snv		0.16	9
rs1635498	EXO1	0.807	0.160	1	241881973	missense variant	C/A;G;T	snv	0.96		9
rs1776148	EXO1	0.807	0.160	1	241879243	missense variant	A/G	snv	0.66	0.66	9
rs748500299	PTGS2	0.790	0.200	1	186675960	missense variant	T/A;C	snv	4.0E-06; 4.0E-06		8
rs751763046	EXO1	0.790	0.200	1	241885375	missense variant	T/C	snv	4.0E-06		8