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
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs2742038	TLX1 ; TLX1NB	0.882	0.120	10	101137330	3 prime UTR variant	C/T	snv		0.16	3
rs11085721	DNMT1	1.000	0.120	19	10207300	intron variant	G/C	snv		0.13	2
rs6214	LINC02456 ; HELLPAR ; IGF1	0.672	0.400	12	102399791	3 prime UTR variant	C/T	snv		0.45	26
rs6218	LINC02456 ; HELLPAR ; IGF1	0.732	0.440	12	102399855	3 prime UTR variant	A/G	snv		2.1E-02	13
rs35866072	MMP8	0.716	0.360	11	102713373	missense variant	T/G	snv	6.0E-02	9.8E-02	17
rs34009635	MMP8	0.716	0.360	11	102713445	missense variant	A/G	snv	2.5E-03	6.2E-04	17
rs750521832	MMP8	0.732	0.200	11	102718452	missense variant	A/G	snv	4.0E-06		14
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs770998368	ERCC5 ; BIVM-ERCC5	0.827	0.240	13	102861511	missense variant	C/G;T	snv	4.0E-06		5
rs1057519866	NT5C2	0.851	0.120	10	103093198	missense variant	C/T	snv			5
rs62527607	BAALC ; BAALC-AS2	0.827	0.160	8	103141321	non coding transcript exon variant	G/T	snv		0.14	5
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs1799796	XRCC3 ; KLC1	0.790	0.240	14	103699590	intron variant	T/A;C	snv	0.31		7
rs861530	LOC112268131 ; XRCC3 ; KLC1	0.732	0.320	14	103707786	3 prime UTR variant	T/C	snv		0.65	13
rs76996680	LEF1	0.882	0.120	4	108163665	missense variant	G/A	snv	1.0E-03	3.4E-04	3
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
rs17069665	FOXO3	0.882	0.120	6	108620265	intron variant	A/C;G	snv			4
rs4946936	FOXO3	0.790	0.160	6	108682118	3 prime UTR variant	T/A;C	snv			8
rs9400241	FOXO3	0.882	0.120	6	108682786	3 prime UTR variant	C/A;G	snv			4
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05		26
rs3776932	MAN2A1	1.000	0.120	5	109850287	intron variant	T/G	snv		0.17	1
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60