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
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	24
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs174538	TMEM258 ; MIR611 ; FEN1	0.701	0.440	11	61792609	5 prime UTR variant	G/A	snv	0.34	0.26	21
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs7804372	CAV1	0.716	0.320	7	116554174	intron variant	T/A	snv		0.27	19
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs34009635	MMP8	0.716	0.360	11	102713445	missense variant	A/G	snv	2.5E-03	6.2E-04	17
rs35866072	MMP8	0.716	0.360	11	102713373	missense variant	T/G	snv	6.0E-02	9.8E-02	17
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
rs3807987	CAV1	0.732	0.280	7	116539780	intron variant	G/A	snv		7.6E-02	17
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv		0.45	16
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs2075686	TMEM167A ; XRCC4	0.742	0.240	5	83076927	intron variant	C/T	snv		1.7E-02	13
rs10821936	ARID5B	0.742	0.200	10	61963818	intron variant	C/T	snv		0.69	11