DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Acute Lymphoblastic Leukemia, C0023452

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
rs7073837	ARID5B	0.851	0.120	10	61940136	intron variant	A/C	snv	0.58	0.64	4
rs10821938	ARID5B	0.925	0.120	10	61965014	intron variant	A/C	snv		0.56	2
rs587781823	ATM	0.851	0.280	11	108284370	frameshift variant	-/T	delins			5
rs1169704167	ATM	0.882	0.120	11	108284370	frameshift variant	-/T	delins	8.0E-06		3
rs62527607	BAALC ; BAALC-AS2	0.827	0.160	8	103141321	non coding transcript exon variant	G/T	snv		0.14	5
rs3733890	BHMT ; DMGDH	0.708	0.480	5	79126136	missense variant	G/A	snv	0.30	0.28	16
rs558133	BHMT ; DMGDH	1.000	0.120	5	79129365	intron variant	C/A;T	snv			2
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs4846049	C1orf167 ; MTHFR	0.776	0.360	1	11790308	3 prime UTR variant	T/A;G	snv			11
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
rs3217927	CCND2	0.827	0.120	12	4302638	3 prime UTR variant	G/A;C	snv			5
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
rs2811709	CDKN2A	1.000	0.120	9	21980152	intron variant	A/G	snv		0.88	1
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs2239633	CEBPE	0.742	0.240	14	23119848	upstream gene variant	G/A	snv		0.38	12
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