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
rs1169704167	ATM	0.882	0.120	11	108284370	frameshift variant	-/T	delins	8.0E-06		3
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16
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
rs2043211	CARD8	0.653	0.480	19	48234449	missense variant	A/T	snv	0.33	0.29	29
rs757874631	CBL	0.882	0.120	11	119278211	missense variant	T/A;C	snv			4
rs3731249	CDKN2A	0.683	0.320	9	21970917	missense variant	C/A;G;T	snv	2.1E-02		23
rs3731217	CDKN2A	0.763	0.320	9	21984662	intron variant	A/C;T	snv			10
rs3731246	CDKN2A	0.882	0.120	9	21971990	intron variant	C/G	snv		0.11	3
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs2239633	CEBPE	0.742	0.240	14	23119848	upstream gene variant	G/A	snv		0.38	12
rs2239630	CEBPE	0.925	0.160	14	23120140	upstream gene variant	A/C;G	snv			6
rs12434881	CEBPE	0.882	0.120	14	23119433	5 prime UTR variant	G/A	snv		0.36	3
rs200928781	CHEK2	0.752	0.240	22	28695800	missense variant	T/A;C;G	snv	2.4E-05		11
rs1296957097	CHEK2	0.882	0.120	22	28719401	missense variant	A/G	snv			3
rs766639320	CLTA	0.851	0.240	9	36211617	missense variant	C/G	snv	4.0E-06		4
rs759602460	CNDP2	0.882	0.120	18	74518552	missense variant	C/G	snv	1.6E-05; 4.0E-06		3
rs1057519743	CRLF2	0.827	0.120	Y	1196852	missense variant	A/C	snv			6
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
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
rs4646450	CYP3A5 ; ZSCAN25	0.882	0.120	7	99668695	3 prime UTR variant	G/A	snv		0.38	4