DisGeNET - a database of gene-disease associations

List of associated variants

Chronic Lymphocytic Leukemia, C0023434

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
rs10165970	NPAS2	0.708	0.320	2	100840527	intron variant	G/A	snv		0.16	18
rs17024869	NPAS2	0.708	0.320	2	100843581	intron variant	T/C	snv		8.3E-02	18
rs895520	NPAS2	0.689	0.320	2	100961475	intron variant	G/A	snv		0.35	23
rs7581886	NPAS2	0.708	0.320	2	100964784	intron variant	C/T	snv		0.92	18
rs2305160	NPAS2 ; NPAS2-AS1	0.776	0.200	2	100974842	missense variant	A/G	snv	0.71	0.75	9
rs1057519825	BTK	0.882	0.120	X	101356176	missense variant	C/G	snv			7
rs1057519826	BTK	0.882	0.120	X	101356177	missense variant	A/T	snv			7
rs10028805	BANK1	0.882	0.160	4	101816093	intron variant	G/A	snv		0.45	3
rs71597109	BANK1	0.925	0.120	4	101819845	intron variant	C/T	snv		0.27	2
rs2511713		0.925	0.120	8	102565637	downstream gene variant	A/G	snv		0.25	2
rs2511714		0.925	0.120	8	102566646	regulatory region variant	T/G	snv		0.41	2
rs2307842	C12orf73 ; HSP90B1	1.000	0.120	12	103947867	3 prime UTR variant	GACT/-;GACTGACT	delins		0.15	1
rs898518	LEF1	0.925	0.120	4	108095668	intron variant	C/A;T	snv			2
rs7690934	LEF1	0.925	0.120	4	108104709	intron variant	T/C	snv		0.57	2
rs2003869	LEF1	0.925	0.120	4	108105258	intron variant	A/C;G;T	snv			2
rs371713984	ATM	1.000	0.120	11	108247110	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		1
rs369203092	ATM	1.000	0.120	11	108247117	missense variant	T/C	snv	8.0E-06		1
rs1041569	TNFSF13B	1.000	0.120	13	108267195	intron variant	T/A;C	snv			1
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs567060474	C11orf65 ; ATM	1.000	0.120	11	108326070	missense variant	G/A;T	snv	1.0E-04		1
rs587781894	ATM ; C11orf65	0.882	0.360	11	108365360	missense variant	G/A;C	snv	8.0E-06	7.0E-06	4
rs13401811	ACOXL	0.925	0.120	2	110858527	intron variant	G/A	snv		0.19	2
rs17483466	MIR4435-2HG ; ACOXL	0.827	0.280	2	111039881	intron variant	A/G	snv		0.15	5
rs58055674	ACOXL ; MIR4435-2HG	0.925	0.120	2	111074216	intron variant	T/C	snv		0.13	2
rs12711846	MIR4435-2HG ; ACOXL-AS1 ; ACOXL	0.851	0.160	2	111098716	non coding transcript exon variant	A/G	snv		0.26	4