DisGeNET - a database of gene-disease associations

List of associated variants

Acute Megakaryocytic Leukemias, C0023462

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		28
rs786201044	PTEN	0.827	0.200	10	87933165	missense variant	T/C	snv			8
rs373667881	TRIB1	0.827	0.160	8	125431222	missense variant	G/A;T	snv	1.1E-03		5
rs864309495	TP53	0.882	0.160	17	7674895	frameshift variant	AA/-;A	delins			4
rs1057519770	JAK3	0.882	0.160	19	17843825	missense variant	A/G	snv			3
rs121913504	JAK3	0.882	0.080	19	17837200	missense variant	G/A	snv			3
rs201283129	JAK3	0.882	0.160	19	17838329	missense variant	C/A;G	snv	2.0E-05		3
rs3213409	JAK3	0.925	0.040	19	17834887	missense variant	C/T	snv	8.6E-03	7.3E-03	3
rs758959409	JAK3	0.882	0.160	19	17835160	missense variant	C/A;T	snv	4.0E-06		3
rs3212723	JAK3	0.925	0.040	19	17843406	missense variant	G/T	snv	6.2E-03	2.6E-02	2
rs398124628	GATA1	1.000	0.040	X	48791260	frameshift variant	-/ACAGCCACCGCTGCAGCTGC	delins			1