DisGeNET - a database of gene-disease associations

List of associated variants

leukemia, C0023418

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
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		13
rs2293157	STAT5A	0.763	0.120	17	42300657	intron variant	C/A;T	snv			9
rs104894421	LIG4	0.882	0.200	13	108210436	missense variant	C/A;T	snv	1.2E-05		4
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs2308950	CASP9	0.882	0.040	1	15507011	missense variant	C/G;T	snv	4.0E-06; 1.1E-02		3
rs7090445	ARID5B	0.925	0.120	10	61961417	intron variant	C/G;T	snv		0.70	2
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs2070874	IL4	0.672	0.560	5	132674018	5 prime UTR variant	C/T	snv	0.28	0.28	27
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	24
rs10821936	ARID5B	0.742	0.200	10	61963818	intron variant	C/T	snv		0.69	11
rs1482518887	RUNX1	0.790	0.040	21	34887018	missense variant	C/T	snv		7.0E-06	8
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs1360131632	STAT5A	0.827	0.080	17	42301316	missense variant	C/T	snv	4.0E-06		6