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	AF GENOME	Num. diseases
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs569067880	TET2-AS1 ; TET2	0.925	0.080	4	105234864	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		2
rs397507510	PTPN11	0.776	0.280	12	112450361	missense variant	G/A;C;T	snv			2
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			2
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			2
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			1
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			4
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			2
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		2
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			1
rs267606708	CBL	0.925	0.040	11	119278541	missense variant	G/A	snv	4.0E-06	2.1E-05	1
rs387906629	GATA2	0.925	0.080	3	128481270	missense variant	G/A	snv			1
rs387906631	GATA2	0.882	0.080	3	128481901	missense variant	G/A	snv			2
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			1
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		1
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			2
rs387907097	TGM6	0.925	0.120	20	2417445	missense variant	T/G	snv	1.5E-04	5.6E-05	1
rs17851045	KRAS	0.672	0.400	12	25227341	missense variant	T/A;G	snv	4.0E-06		1
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			1
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		1
rs377577594	DNMT3A	0.827	0.240	2	25234374	missense variant	G/A;C;T	snv	1.2E-04; 8.0E-06		1
rs104894366	KRAS	0.776	0.400	12	25245284	missense variant	G/A;C	snv			2
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			2
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		3