DisGeNET - a database of gene-disease associations

List of associated variants

Acute lymphocytic leukemia, C0023449

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
rs587776834	FLT3	1.000	0.120	13	28034140	inframe deletion	TCA/-	delins			1
rs79327197	HLA-DOA	1.000	0.120	6	33010635	upstream gene variant	A/G	snv		1.6E-02	1
rs2070120	HLA-DOB	1.000	0.120	6	32813137	3 prime UTR variant	G/A	snv		9.8E-02	1
rs10853104	IGF2BP1	1.000	0.120	17	49014714	intron variant	C/G;T	snv			1
rs72846714	NT5C2	1.000	0.120	10	103118697	intron variant	G/A	snv		0.15	1
rs76925697		0.925	0.120	9	81132456	regulatory region variant	A/T	snv		3.4E-02	2
rs7896246	ARID5B	0.925	0.120	10	61964631	intron variant	A/G	snv		0.74	2
rs408626	DHFR ; MSH3	0.925	0.120	5	80655314	non coding transcript exon variant	T/C	snv		0.48	2
rs17213693	HLA-DOB	0.925	0.120	6	32813344	intron variant	G/C	snv		9.8E-02	2
rs1339159756	INSL6 ; JAK2	0.925	0.120	9	5078395	missense variant	C/G	snv			2
rs886285	IRF1-AS1	0.925	0.120	5	132429514	intron variant	T/C	snv		0.57	2
rs78380171	LOC101927518	0.925	0.120	3	86720838	intergenic variant	A/G	snv		6.6E-03	2
rs442767	MSH3 ; DHFR	0.925	0.120	5	80655677	intron variant	G/T	snv		0.27	2
rs147390019	NUDT15	0.925	0.120	13	48045720	missense variant	G/A	snv	2.6E-03	2.2E-03	2
rs2790	TYMS ; ENOSF1	0.925	0.160	18	673086	3 prime UTR variant	A/G;T	snv		0.22	2
rs200378616	ABCB1	0.882	0.120	7	87544938	missense variant	G/C;T	snv	4.0E-05; 8.0E-06		3
rs1169704167	ATM	0.882	0.120	11	108284370	frameshift variant	-/T	delins	8.0E-06		3
rs35134728	C1orf167 ; MTHFR	0.882	0.120	1	11787277	3 prime UTR variant	-/AGA	delins			3
rs3737966	C1orf167 ; MTHFR	0.882	0.120	1	11787702	3 prime UTR variant	C/T	snv		0.55	3
rs3731246	CDKN2A	0.882	0.120	9	21971990	intron variant	C/G	snv		0.11	3
rs12434881	CEBPE	0.882	0.120	14	23119433	5 prime UTR variant	G/A	snv		0.36	3
rs1296957097	CHEK2	0.882	0.120	22	28719401	missense variant	A/G	snv			3
rs759602460	CNDP2	0.882	0.120	18	74518552	missense variant	C/G	snv	1.6E-05; 4.0E-06		3
rs140422742	CYP3A4	0.882	0.120	7	99778046	missense variant	T/C;G	snv	7.6E-05	6.3E-05	3
rs368005287	CYP3A4	0.882	0.120	7	99762071	stop gained	C/T	snv	1.2E-05	7.0E-06	3