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
rs2740348	GEMIN4	0.851	0.160	17	746695	missense variant	G/C;T	snv	0.85		6
rs121913516	KIT	1.000	0.080	4	54729353	missense variant	C/T	snv	4.0E-06		6
rs121908587	PDGFRA	0.827	0.120	4	54278380	missense variant	C/T	snv			6
rs1360131632	STAT5A	0.827	0.080	17	42301316	missense variant	C/T	snv	4.0E-06		6
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			5
rs137852975	HNRNPUL2-BSCL2 ; BSCL2	0.851	0.240	11	62692671	stop gained	C/A	snv	2.0E-05	1.4E-05	5
rs267607040	SETBP1	0.851	0.320	18	44951948	missense variant	G/A	snv			5
rs267607042	SETBP1	0.851	0.320	18	44951942	missense variant	G/A;C	snv			5
rs6503691	STAT5B	0.827	0.200	17	42242072	intron variant	C/T	snv		0.26	5
rs4148356	ABCC1	0.851	0.120	16	16083418	missense variant	G/A	snv	2.3E-02	1.3E-02	4
rs45511401	ABCC1	0.851	0.120	16	16079375	missense variant	G/T	snv	3.8E-02	3.6E-02	4
rs1057519773	ABL1	0.851	0.160	9	130872901	missense variant	T/A;C;G	snv			4
rs121913451	ABL1	0.851	0.160	9	130872903	missense variant	C/A;G	snv			4
rs121913452	ABL1	0.851	0.080	9	130873027	missense variant	T/A;C;G	snv			4
rs1060500091	GATA2	0.882	0.120	3	128481887	missense variant	A/C	snv			4
rs267607038	SETBP1	0.882	0.320	18	44951952	missense variant	T/C;G	snv	8.0E-06		4
rs141157255	APAF1	0.882	0.120	12	98659331	missense variant	G/A	snv	4.0E-05	2.8E-05	3
rs3092856	ATM	0.882	0.120	11	108289005	missense variant	C/T	snv	1.2E-02	2.2E-02	3
rs1407906280	MDM2	0.882	0.120	12	68839467	missense variant	C/T	snv	4.0E-06	7.0E-06	3
rs1057519771	ABL1	1.000	0.080	9	130872201	missense variant	G/C	snv			2
rs121913454	ABL1	0.925	0.080	9	130874969	missense variant	A/G	snv			2
rs121913460	ABL1	0.925	0.080	9	130862971	missense variant	A/T	snv			2
rs1314838108	ABL1	0.925	0.160	9	130854977	missense variant	G/A	snv		7.0E-06	2
rs111340708	ATXN2 ; SH2B3	0.925	0.080	12	111447548	intron variant	TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG	delins		0.52	2