DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Lymphoma, C1332979

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
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs3135932	IL10RA	0.677	0.480	11	117993348	missense variant	A/G	snv	0.13	0.11	23
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs995922697	GPX1	0.724	0.560	3	49357413	missense variant	A/G	snv	4.1E-06		15
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			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
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs1353428252	IDH2	0.851	0.120	15	90088681	missense variant	A/C	snv	8.0E-06		5
rs8177400	TIRAP	0.882	0.160	11	126292695	missense variant	G/A;C;T	snv	2.8E-03; 1.2E-05		4
rs1057519833	EZH2	0.925	0.120	7	148809375	missense variant	G/C	snv			3
rs1257715362	MAPK10 ; ARHGAP24	0.925	0.120	4	85995065	missense variant	A/G	snv		7.0E-06	3
rs1351687973	TP73	0.925	0.120	1	3731497	missense variant	G/A	snv	1.6E-05		3
rs138228187	TIRAP	0.925	0.120	11	126292650	missense variant	C/T	snv	4.0E-05	1.4E-05	3
rs1555525126	TP53	0.925	0.120	17	7673749	missense variant	T/C	snv			3