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
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
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
rs1800890	IL19	0.658	0.400	1	206776020	intron variant	A/T	snv		0.32	29
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
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs2395185	HLA-DRB9	0.724	0.360	6	32465390	intron variant	G/T	snv		0.29	17
rs995922697	GPX1	0.724	0.560	3	49357413	missense variant	A/G	snv	4.1E-06		15
rs3099844	MICB-DT	0.732	0.400	6	31481199	non coding transcript exon variant	C/A	snv		0.11	13
rs2071286	NOTCH4	0.752	0.280	6	32212119	intron variant	C/T	snv		0.17	12
rs9461776	HLA-DRB1	0.763	0.240	6	32607958	intergenic variant	A/G	snv		8.8E-02	11
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
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
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
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