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
rs10190751	CFLAR-AS1 ; CFLAR	0.882	0.120	2	201141373	splice acceptor variant	G/A	snv	0.18	0.26	4
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1042752	POU2AF1	0.925	0.120	11	111352386	3 prime UTR variant	A/G	snv		0.39	3
rs10494879	IL19	0.925	0.120	1	206778859	intron variant	C/A;G	snv		0.36	3
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			9
rs1057519833	EZH2	0.925	0.120	7	148809375	missense variant	G/C	snv			3
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs11466782	ADAM19	0.925	0.120	5	157494947	intron variant	A/G	snv		0.10	3
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		27
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		13
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs12289961	OR10Q2P			11	58292720	non coding transcript exon variant	C/T	snv		0.28	1
rs1257715362	MAPK10 ; ARHGAP24	0.925	0.120	4	85995065	missense variant	A/G	snv		7.0E-06	3
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23