DisGeNET - a database of gene-disease associations

List of associated variants

Lymphoma, C0024299

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
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			9
rs63750250	PMS2	0.807	0.280	7	5986933	frameshift variant	-/T	delins	1.6E-05	4.2E-05	9
rs61756766	TNFRSF13C	0.776	0.320	22	41925447	missense variant	G/A	snv	5.7E-03	5.7E-03	9
rs267601394	EZH2	0.807	0.200	7	148811635	missense variant	T/A;G	snv			8
rs563378859	TP53	0.851	0.320	17	7675146	missense variant	G/A	snv	4.0E-06	2.1E-05	8
rs74790047	CHD4	0.851	0.120	12	6601978	missense variant	A/C;G	snv	2.0E-05; 1.2E-04; 5.2E-03	1.7E-03	7
rs267601395	EZH2	0.925	0.160	7	148811636	missense variant	A/G;T	snv			7
rs267608150	PMS2	0.851	0.320	7	5997388	stop gained	AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN	delins			7
rs2227307	CXCL8	0.851	0.240	4	73740952	intron variant	T/G	snv		0.45	6
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs867114783	TP53			17	7675109	missense variant	T/C	snv			6
rs2231231	AQP3	0.851	0.240	9	33442988	non coding transcript exon variant	A/C	snv	0.67	0.69	5
rs1353428252	IDH2	0.851	0.120	15	90088681	missense variant	A/C	snv	8.0E-06		5
rs2621416		0.882	0.280	6	32774091	intergenic variant	T/C	snv		0.26	4
rs751837	CDC42BPB	0.882	0.120	14	103018488	intron variant	T/C	snv		0.23	4
rs10190751	CFLAR-AS1 ; CFLAR	0.882	0.120	2	201141373	splice acceptor variant	G/A	snv	0.18	0.26	4
rs2304240	ICAM3	0.882	0.200	19	10338716	synonymous variant	A/G	snv	0.81	0.85	4
rs6676671	IL19	0.882	0.160	1	206779403	intron variant	T/A	snv		0.32	4
rs8177400	TIRAP	0.882	0.160	11	126292695	missense variant	G/A;C;T	snv	2.8E-03; 1.2E-05		4
rs11466782	ADAM19	0.925	0.120	5	157494947	intron variant	A/G	snv		0.10	3
rs2466571	CD46	0.925	0.120	1	207766701	intron variant	G/T	snv		0.46	3
rs1802710	DLK1			14	100734308	synonymous variant	T/A;C	snv	0.63		3
rs867329357	ERCC5 ; BIVM-ERCC5	0.925	0.120	13	102872275	missense variant	G/A	snv	4.0E-06	4.9E-05	3
rs1057519833	EZH2	0.925	0.120	7	148809375	missense variant	G/C	snv			3
rs10494879	IL19	0.925	0.120	1	206778859	intron variant	C/A;G	snv		0.36	3