DisGeNET - a database of gene-disease associations

List of associated variants

Lymphoma, Non-Hodgkin, C0024305

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
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs1163350491	OCM	1.000	0.120	7	5880922	synonymous variant	C/T	snv	4.0E-06		1
rs1185926926	SLC19A1	1.000	0.120	21	45531748	missense variant	A/G	snv	4.1E-06		1
rs11943456	TMEM165	0.708	0.320	4	55410167	intron variant	T/C	snv		0.42	18
rs1207011218	CTLA4	0.742	0.440	2	203870794	synonymous variant	C/T	snv			12
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908689	RAD54L ; LRRC41	0.925	0.120	1	46272758	missense variant	T/A	snv			2
rs121913338	BRAF	0.677	0.400	7	140753354	missense variant	T/A;C;G	snv			24
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121913357	BRAF	0.742	0.320	7	140781603	stop gained	C/A;G;T	snv			12
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs12203592	IRF4	0.649	0.320	6	396321	intron variant	C/T	snv		0.10	38
rs12211228	IRF4	1.000	0.120	6	408833	3 prime UTR variant	G/C	snv		0.11	2
rs1250480918	SLC19A1	1.000	0.120	21	45537803	synonymous variant	G/A	snv	4.6E-06		1
rs1256046734	LEPR	0.763	0.280	1	65621409	missense variant	A/G	snv		7.0E-06	12
rs1270942	CFB ; CYP21A2	0.742	0.440	6	31951083	non coding transcript exon variant	A/G	snv		7.5E-02	11
rs12711521	MASP2 ; TARDBP	0.807	0.240	1	11030859	missense variant	C/A	snv	0.74	0.63	7
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs13113	CASP8	0.925	0.200	2	201287439	3 prime UTR variant	T/A	snv		0.33	2
rs1314305899	NOS3	0.807	0.280	7	151003224	missense variant	C/T	snv	7.9E-06	2.1E-05	6
rs13178127	XRCC4	1.000	0.120	5	83293613	intron variant	A/G	snv		3.3E-02	1
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1320767909	SLC19A1	1.000	0.120	21	45531982	missense variant	A/G	snv	4.1E-06		1
rs13306698	PON1	0.882	0.240	7	95311470	missense variant	T/C	snv	6.0E-03	1.9E-03	3
rs1335035506	SHMT1	1.000	0.120	17	18340207	missense variant	A/G	snv	4.0E-06	1.4E-05	1