DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

Source: BEFREE ×

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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
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
rs1057519771	ABL1	1.000	0.080	9	130872201	missense variant	G/C	snv			2
rs1057519773	ABL1	0.851	0.160	9	130872901	missense variant	T/A;C;G	snv			4
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		9
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			213
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			5
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			14
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
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
rs121913454	ABL1	0.925	0.080	9	130874969	missense variant	A/G	snv			2
rs121913456	ABL1	1.000	0.080	9	130862943	missense variant	A/G	snv			1
rs121913457	ABL1	1.000	0.080	9	130873004	missense variant	T/C	snv			1
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			23
rs121913460	ABL1	0.925	0.080	9	130862971	missense variant	A/T	snv			2
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			2