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
rs45511401	ABCC1	0.851	0.120	16	16079375	missense variant	G/T	snv	3.8E-02	3.6E-02	4
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs2740348	GEMIN4	0.851	0.160	17	746695	missense variant	G/C;T	snv	0.85		6
rs121913458	ABL1	1.000	0.080	9	130862969	missense variant	G/C;T	snv			1
rs1057519771	ABL1	1.000	0.080	9	130872201	missense variant	G/C	snv			2
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs799917	BRCA1	0.708	0.320	17	43092919	missense variant	G/A;C;T	snv	0.40; 1.6E-05		18
rs683369	SLC22A1	0.807	0.360	6	160130172	missense variant	G/A;C;T	snv	4.0E-06; 0.83; 4.0E-06		7
rs267607042	SETBP1	0.851	0.320	18	44951942	missense variant	G/A;C	snv			5
rs12573787	KLLN ; PTEN	1.000	0.080	10	87863959	5 prime UTR variant	G/A;C	snv			1
rs369488601	RSPH14 ; BCR	1.000	0.080	22	23181175	missense variant	G/A;C	snv	1.9E-05; 9.7E-05		1
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs1190999960	ZNRD2-AS1 ; ZNRD2 ; FAM89B	0.807	0.240	11	65571690	missense variant	G/A	snv			9
rs636832	AGO1	0.790	0.400	1	35897874	intron variant	G/A	snv		0.23	8
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			6
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs267607040	SETBP1	0.851	0.320	18	44951948	missense variant	G/A	snv			5
rs4148356	ABCC1	0.851	0.120	16	16083418	missense variant	G/A	snv	2.3E-02	1.3E-02	4
rs141157255	APAF1	0.882	0.120	12	98659331	missense variant	G/A	snv	4.0E-05	2.8E-05	3
rs1208076129	POU5F1 ; TCF19	0.925	0.120	6	31164861	stop gained	G/A	snv	4.1E-06	2.1E-05	2