DisGeNET - a database of gene-disease associations

List of associated variants

Acute leukemia, C0085669

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
rs767464424	CEBPZ	0.925	0.080	2	37222420	frameshift variant	T/-	delins	4.2E-06		3
rs777017502	CEBPZ	0.925	0.080	2	37222420	missense variant	T/C;G	snv	4.2E-06; 4.2E-06		3
rs2230724	JAK2 ; INSL6	0.851	0.120	9	5081780	synonymous variant	G/A	snv	0.53	0.62	4
rs751689316	MECOM	0.925	0.080	3	169131510	missense variant	C/T	snv	1.2E-05		4
rs62527607	BAALC ; BAALC-AS2	0.827	0.160	8	103141321	non coding transcript exon variant	G/T	snv		0.14	5
rs1057519766	FLT3	0.851	0.080	13	28028203	missense variant	G/C;T	snv			5
rs797045145	HFE ; LOC108783645	0.807	0.240	6	26091479	stop gained	G/A	snv			6
rs1325757098	TAT ; TAT-AS1	0.827	0.160	16	71576223	missense variant	C/T	snv	8.0E-06	7.0E-06	6
rs8073069	BIRC5	0.807	0.200	17	78213692	upstream gene variant	G/C	snv		0.33	7
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs11978267	IKZF1	0.763	0.240	7	50398606	intron variant	A/G	snv		0.25	9
rs4132601	IKZF1	0.763	0.240	7	50402906	3 prime UTR variant	T/G	snv		0.25	9
rs1470755915	RUNX1T1	0.776	0.240	8	92005229	missense variant	C/A	snv		7.0E-06	10
rs927698341	RUNX1T1	0.776	0.240	8	92005280	synonymous variant	C/A	snv	4.0E-06	2.8E-05	10
rs1799929	NAT2	0.776	0.240	8	18400484	synonymous variant	C/T	snv	0.36	0.36	11
rs2239633	CEBPE	0.742	0.240	14	23119848	upstream gene variant	G/A	snv		0.38	12
rs35201683	HFE	0.732	0.360	6	26094205	stop gained	C/A;T	snv	1.4E-03		12
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs1532268	MTRR	0.776	0.280	5	7878066	missense variant	C/T	snv	0.31	0.32	12
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			14
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs559063155	SF3B1	0.732	0.280	2	197402110	stop gained	T/A;C;G	snv	9.0E-05		14
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15