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
rs2413739	PACSIN2	0.827	0.120	22	43001030	intron variant	C/T	snv		0.43	6
rs1188975135	APOBEC3C ; APOBEC3F	0.882	0.040	22	39017772	missense variant	T/C	snv	4.0E-06		4
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs1482518887	RUNX1	0.790	0.040	21	34887018	missense variant	C/T	snv		7.0E-06	8
rs762613037	SLC19A1 ; COL18A1	0.790	0.160	21	45512196	missense variant	A/G	snv	2.1E-05	7.0E-06	7
rs74315450	RUNX1	0.851	0.120	21	34859485	missense variant	C/T	snv			5
rs754894156	RUNX1	0.925	0.040	21	34834544	missense variant	C/T	snv	4.0E-06		2
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs387906553	ELANE	0.827	0.120	19	853022	missense variant	G/A;C	snv	1.2E-05		6
rs10405859	PPP1R37 ; MARK4	0.882	0.080	19	45099523	intron variant	T/C	snv		0.48	3
rs139834892	XRCC1	0.882	0.040	19	43553481	missense variant	C/T	snv	6.4E-05	1.1E-04	3
rs780634396	BCL2	0.882	0.120	18	63318618	missense variant	T/C	snv	4.0E-06		5
rs3794845	MBP	0.882	0.120	18	77002561	intron variant	G/C	snv		0.12	3
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	24