DisGeNET - a database of gene-disease associations

Source: UNIPROT

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

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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	Num. diseases
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv		2
rs1057519709	KIT	0.925	0.080	4	54733154	missense variant	GA/AT	mnv		1
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv		2
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv		1
rs587782529	TP53	0.851	0.200	17	7670700	missense variant	G/A;C	snv		1
rs1057519985	TP53	0.724	0.360	17	7673763	missense variant	T/A;C;G	snv		1
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05	1
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05	1
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	1
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06	1
rs483352695	TP53	0.882	0.200	17	7674227	missense variant	T/A;C;G	snv		1
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06	2
rs786201838	TP53	0.683	0.440	17	7674953	missense variant	T/A;C;G	snv		1
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06	1
rs587781288	TP53	0.732	0.440	17	7675190	missense variant	C/A;T	snv		1
rs57246956	ELANE	0.882	0.080	19	855649	missense variant	G/A;T	snv		1
rs137854451	ELANE	0.925	0.080	19	856000	missense variant	G/A	snv		1
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05	1
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv		1
rs1057519906	IDH2	0.882	0.120	15	90088607	missense variant	T/A;C	snv		1
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05	1
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv		1
rs1466524306	UBAC2 ; GPR183	1.000	0.040	13	99295133	missense variant	G/A	snv	4.0E-06	1