DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Leukemia, C1332977

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs1997623	CAV1	0.807	0.160	7	116525306	missense variant	A/C;G	snv	0.86		9
rs201045130	NT5C1A	0.925	0.040	1	39659467	missense variant	A/G	snv	9.9E-05	1.0E-04	2
rs201820837	ETV6	0.925	0.040	12	11869532	missense variant	G/A;T	snv	2.4E-05; 6.4E-05		2
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs2070874	IL4	0.672	0.560	5	132674018	5 prime UTR variant	C/T	snv	0.28	0.28	27
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
rs2075686	TMEM167A ; XRCC4	0.742	0.240	5	83076927	intron variant	C/T	snv		1.7E-02	13
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2228014	CXCR4	0.752	0.240	2	136115514	synonymous variant	G/A	snv	4.6E-02	3.5E-02	14
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs227060	C11orf65 ; ATM	0.882	0.160	11	108334154	intron variant	C/T	snv		0.27	3
rs227092	ATM ; C11orf65	1.000	0.040	11	108366056	3 prime UTR variant	G/A;C;T	snv			1
rs2285053	MMP2	0.752	0.320	16	55478465	intron variant	C/T	snv		0.12	15
rs2293157	STAT5A	0.763	0.120	17	42300657	intron variant	C/A;T	snv			9