DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Leukemia, Myelocytic, Acute ×

Variants associated to the Gene: CEBPA ×

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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
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
rs1356845856	CEBPA-DT ; CEBPA	1.000	0.040	19	33302132	missense variant	C/T	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
rs919904139	CEBPA ; CEBPA-DT	1.000	0.040	19	33302027	missense variant	C/T	snv		2.0E-04	1