DisGeNET - a database of gene-disease associations

List of associated variants

Acute leukemia, C0085669

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
rs1325757098	TAT ; TAT-AS1	0.827	0.160	16	71576223	missense variant	C/T	snv	8.0E-06	7.0E-06	6
rs751689316	MECOM	0.925	0.080	3	169131510	missense variant	C/T	snv	1.2E-05		4
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2239633	CEBPE	0.742	0.240	14	23119848	upstream gene variant	G/A	snv		0.38	12
rs797045145	HFE ; LOC108783645	0.807	0.240	6	26091479	stop gained	G/A	snv			6
rs2230724	JAK2 ; INSL6	0.851	0.120	9	5081780	synonymous variant	G/A	snv	0.53	0.62	4
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs8073069	BIRC5	0.807	0.200	17	78213692	upstream gene variant	G/C	snv		0.33	7
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs1057519766	FLT3	0.851	0.080	13	28028203	missense variant	G/C;T	snv			5
rs62527607	BAALC ; BAALC-AS2	0.827	0.160	8	103141321	non coding transcript exon variant	G/T	snv		0.14	5
rs767464424	CEBPZ	0.925	0.080	2	37222420	frameshift variant	T/-	delins	4.2E-06		3
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs559063155	SF3B1	0.732	0.280	2	197402110	stop gained	T/A;C;G	snv	9.0E-05		14
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs777017502	CEBPZ	0.925	0.080	2	37222420	missense variant	T/C;G	snv	4.2E-06; 4.2E-06		3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs4132601	IKZF1	0.763	0.240	7	50402906	3 prime UTR variant	T/G	snv		0.25	9