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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05		26
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs201765376	MTR	0.732	0.360	1	236838504	synonymous variant	C/T	snv	1.6E-05	1.4E-05	12
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs4846049	C1orf167 ; MTHFR	0.776	0.360	1	11790308	3 prime UTR variant	T/A;G	snv			11
rs3021097	IL10 ; IL19	0.752	0.440	1	206773289	5 prime UTR variant	A/G	snv			10
rs369410616	MUTYH	0.752	0.280	1	45329400	missense variant	C/T	snv	2.0E-05	2.8E-05	10
rs200890679	MTHFR	0.790	0.240	1	11795191	missense variant	C/A;G	snv	1.8E-04	2.0E-04	7
rs757891309	MTR	0.882	0.120	1	236850389	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs12402181	SGIP1 ; MIR3117	0.882	0.120	1	66628488	mature miRNA variant	G/A	snv	0.17	0.24	3
rs35134728	C1orf167 ; MTHFR	0.882	0.120	1	11787277	3 prime UTR variant	-/AGA	delins			3