DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

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
rs121913460	ABL1	0.925	0.080	9	130862971	missense variant	A/T	snv			2
rs121913449	ABL1	1.000	0.080	9	130862977	missense variant	A/T	snv			1
rs1257378	LOC105369438 ; PIWIL4	1.000	0.080	11	94621792	intron variant	A/T	snv			1
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs137852975	HNRNPUL2-BSCL2 ; BSCL2	0.851	0.240	11	62692671	stop gained	C/A	snv	2.0E-05	1.4E-05	5
rs1483790387	TMED7-TICAM2 ; TMED7	0.925	0.120	5	115625762	missense variant	C/A	snv			2
rs121913451	ABL1	0.851	0.160	9	130872903	missense variant	C/A;G	snv			4
rs766124888	BCR	1.000	0.080	22	23253817	missense variant	C/A;G	snv	4.0E-06; 4.0E-06		1
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs121913455	ABL1	1.000	0.080	9	130862955	missense variant	C/G	snv			1
rs9610915	MAFF	1.000	0.080	22	38215073	3 prime UTR variant	C/G	snv	0.48	0.41	1
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs717620	ABCC2	0.763	0.240	10	99782821	5 prime UTR variant	C/T	snv	0.17	0.15	10
rs1250394819	LOC101927100 ; TMED7-TICAM2 ; TMED7	0.807	0.240	5	115616325	missense variant	C/T	snv	4.0E-06		9
rs121908587	PDGFRA	0.827	0.120	4	54278380	missense variant	C/T	snv			6
rs121913516	KIT	1.000	0.080	4	54729353	missense variant	C/T	snv	4.0E-06		6
rs1360131632	STAT5A	0.827	0.080	17	42301316	missense variant	C/T	snv	4.0E-06		6
rs6503691	STAT5B	0.827	0.200	17	42242072	intron variant	C/T	snv		0.26	5
rs1407906280	MDM2	0.882	0.120	12	68839467	missense variant	C/T	snv	4.0E-06	7.0E-06	3
rs3092856	ATM	0.882	0.120	11	108289005	missense variant	C/T	snv	1.2E-02	2.2E-02	3
rs281860566	HLA-C ; HLA-B	1.000	0.080	6	31270339	missense variant	C/T	snv			1
rs375912312	EPHA8	1.000	0.080	1	22588916	missense variant	C/T	snv		7.0E-06	1