DisGeNET - a database of gene-disease associations

List of shared variants

Leukemia, Myelocytic, Acute, C0023467

Disease: leukemia

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
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs2228014	CXCR4	0.752	0.240	2	136115514	synonymous variant	G/A	snv	4.6E-02	3.5E-02	14
rs556915505	MECOM	0.851	0.080	3	169143780	missense variant	T/C	snv	4.0E-06	7.0E-06	5
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			12
rs121913521	KIT	0.790	0.120	4	54727447	missense variant	T/A;C;G	snv			12
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs1408538785	DNAH8	0.827	0.080	6	38761760	missense variant	A/G	snv		7.0E-06	6
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs11545078	GGH	0.807	0.200	8	63026205	missense variant	G/A	snv	8.8E-02	7.8E-02	6
rs1470755915	RUNX1T1	0.776	0.240	8	92005229	missense variant	C/A	snv		7.0E-06	10
rs778036161	RUNX1T1	0.776	0.080	8	92017363	missense variant	T/C	snv	8.0E-06		9
rs927698341	RUNX1T1	0.776	0.240	8	92005280	synonymous variant	C/A	snv	4.0E-06	2.8E-05	10
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18