DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, Myelocytic, Acute, C0023467

Source: CLINVAR ×

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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
rs1057519781	ALK	0.807	0.160	2	29209816	missense variant	C/G	snv			1
rs267606706	CBL	0.807	0.240	11	119278181	missense variant	T/A;C	snv	8.0E-06		6
rs267606708	CBL	0.925	0.040	11	119278541	missense variant	G/A	snv	4.0E-06	2.1E-05	1
rs1060502121	CEBPA-DT ; CEBPA	1.000	0.040	19	33302225	frameshift variant	TGTCG/-	del			1
rs121912791	CEBPA-DT ; CEBPA	1.000	0.040	19	33302267	stop gained	C/A	snv			1
rs137852730	CEBPA-DT ; CEBPA	1.000	0.040	19	33302274	frameshift variant	G/-	delins			1
rs137852731	CEBPA-DT ; CEBPA	1.000	0.040	19	33302213	frameshift variant	-/TAGG	delins			1
rs137852732	CEBPA-DT ; CEBPA	1.000	0.040	19	33302095	frameshift variant	-/CA	delins			1
rs137852733	CEBPA-DT ; CEBPA	1.000	0.040	19	33302197	frameshift variant	-/G	ins			1
rs1555742295	CEBPA-DT ; CEBPA	1.000	0.040	19	33302295	frameshift variant	-/G	delins			1
rs587776848	CEBPA-DT ; CEBPA	1.000	0.040	19	33302294	frameshift variant	GCGGGGC/-	delins			1
rs137852728	CEBPA ; CEBPA-DT	1.000	0.040	19	33302347	frameshift variant	G/-;GG	delins			1
rs1555741948	CEBPA ; CEBPA-DT	1.000	0.040	19	33301423	inframe insertion	-/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG	delins			1
rs1555741967	CEBPA ; CEBPA-DT	1.000	0.040	19	33301463	inframe insertion	-/GCTCCAGCACCTTCTGCTGCGTCTCCA	delins			1
rs1555742213	CEBPA ; CEBPA-DT	1.000	0.040	19	33302076	frameshift variant	GGGCGCGC/-	delins			1
rs28931590	CEBPA ; CEBPA-DT	1.000	0.040	19	33302164	missense variant	T/A	snv			1
rs587776849	CEBPA ; CEBPA-DT	1.000	0.040	19	33302200	frameshift variant	-/CCGG	delins			1
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			2
rs762890562	DDX41	0.925	0.040	5	177515944	stop gained	-/CATC	delins	8.7E-05	7.0E-05	2
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			1
rs771063992	DNAJC21	0.827	0.240	5	34937431	stop gained	C/T	snv	2.8E-05	2.8E-05	7
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		7
rs377577594	DNMT3A	0.827	0.240	2	25234374	missense variant	G/A;C;T	snv	1.2E-04; 8.0E-06		4
rs759380437	DNMT3A	0.925	0.200	2	25247685	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		2
rs771174392	DNMT3A	0.925	0.200	2	25235779	missense variant	T/C	snv			2