DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

Source: ALL

Results per page

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1057519758	ABL1	1.000	0.080	9	130872153	missense variant	T/G	snv			1
rs1057519771	ABL1	1.000	0.080	9	130872201	missense variant	G/C	snv			2
rs1057519772	ABL1	1.000	0.080	9	130872895	missense variant	A/G	snv			1
rs1057519773	ABL1	0.851	0.160	9	130872901	missense variant	T/A;C;G	snv			4
rs1057519774	ABL1	1.000	0.080	9	130872902	missense variant	T/G	snv			1
rs1057519775	ABL1	1.000	0.080	9	130873028	missense variant	T/G	snv			1
rs1057519776	CSF3R	1.000	0.080	1	36467843	missense variant	T/C	snv			1
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs1060500091	GATA2	0.882	0.120	3	128481887	missense variant	A/C	snv			4
rs1064156	ABL1	1.000	0.080	9	130878519	missense variant	G/A	snv	4.0E-06		1
rs111340708	ATXN2 ; SH2B3	0.925	0.080	12	111447548	intron variant	TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG	delins		0.52	2
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1178702025	SETBP1	1.000	0.080	18	44951912	missense variant	G/A	snv			1
rs1190999960	ZNRD2-AS1 ; ZNRD2 ; FAM89B	0.807	0.240	11	65571690	missense variant	G/A	snv			9
rs1208076129	POU5F1 ; TCF19	0.925	0.120	6	31164861	stop gained	G/A	snv	4.1E-06	2.1E-05	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908587	PDGFRA	0.827	0.120	4	54278380	missense variant	C/T	snv			6
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913370	BRAF	0.763	0.360	7	140753393	missense variant	T/C;G	snv			10
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs121913449	ABL1	1.000	0.080	9	130862977	missense variant	A/T	snv			1