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
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs867329357	ERCC5 ; BIVM-ERCC5	0.925	0.120	13	102872275	missense variant	G/A	snv	4.0E-06	4.9E-05	3
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs751837	CDC42BPB	0.882	0.120	14	103018488	intron variant	T/C	snv		0.23	4
rs2304240	ICAM3	0.882	0.200	19	10338716	synonymous variant	A/G	snv	0.81	0.85	4
rs1042752	POU2AF1	0.925	0.120	11	111352386	3 prime UTR variant	A/G	snv		0.39	3
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs3135932	IL10RA	0.677	0.480	11	117993348	missense variant	A/G	snv	0.13	0.11	23
rs138228187	TIRAP	0.925	0.120	11	126292650	missense variant	C/T	snv	4.0E-05	1.4E-05	3
rs8177400	TIRAP	0.882	0.160	11	126292695	missense variant	G/A;C;T	snv	2.8E-03; 1.2E-05		4
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs707824	LOC101928354	0.925	0.120	6	14636732	intergenic variant	T/C	snv		0.74	3
rs1057519833	EZH2	0.925	0.120	7	148809375	missense variant	G/C	snv			3
rs267601394	EZH2	0.807	0.200	7	148811635	missense variant	T/A;G	snv			8
rs11466782	ADAM19	0.925	0.120	5	157494947	intron variant	A/G	snv		0.10	3
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
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
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs10190751	CFLAR-AS1 ; CFLAR	0.882	0.120	2	201141373	splice acceptor variant	G/A	snv	0.18	0.26	4
rs2274084	GJB2	0.882	0.240	13	20189503	missense variant	C/T	snv	5.4E-02	2.2E-02	6
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119