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
rs11085721	DNMT1	1.000	0.120	19	10207300	intron variant	G/C	snv		0.13	2
rs11099592	HPSE	0.851	0.160	4	83309466	missense variant	T/C	snv	0.78	0.80	5
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs111978267	KCNQ1	0.882	0.120	11	2751648	intron variant	C/G;T	snv		2.8E-05	3
rs1121404	WWOX	1.000	0.120	16	79055972	intron variant	T/A;C	snv			1
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs1142345	TPMT	0.776	0.280	6	18130687	missense variant	T/C;G	snv	3.7E-02		9
rs11545078	GGH	0.807	0.200	8	63026205	missense variant	G/A	snv	8.8E-02	7.8E-02	6
rs1164376164	ABCB1	0.851	0.200	7	87601024	5 prime UTR variant	A/G	snv			6
rs116855232	NUDT15	0.742	0.400	13	48045719	missense variant	C/T	snv	2.8E-02	1.1E-02	12
rs1169704167	ATM	0.882	0.120	11	108284370	frameshift variant	-/T	delins	8.0E-06		3
rs11868708	MIR6778 ; SHMT1	1.000	0.120	17	18341299	non coding transcript exon variant	T/A;C;G	snv			1
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1194008138	NR3C1	0.882	0.120	5	143400121	missense variant	T/C	snv	4.0E-06		3
rs11978267	IKZF1	0.763	0.240	7	50398606	intron variant	A/G	snv		0.25	9
rs11980379	IKZF1	0.882	0.120	7	50402283	3 prime UTR variant	T/C	snv		0.25	3
rs1206846668	FOLH1	0.724	0.400	11	49185773	missense variant	G/A	snv	4.1E-06		16
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480