DisGeNET - a database of gene-disease associations

List of associated variants

leukemia, C0023418

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs387906666	CBL	0.827	0.080	11	119278182	missense variant	A/C;G	snv			5
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs762613037	SLC19A1 ; COL18A1	0.790	0.160	21	45512196	missense variant	A/G	snv	2.1E-05	7.0E-06	7
rs1408538785	DNAH8	0.827	0.080	6	38761760	missense variant	A/G	snv		7.0E-06	6
rs17886724	STAT3	0.925	0.040	17	42344145	intron variant	A/G	snv		0.35	2
rs201045130	NT5C1A	0.925	0.040	1	39659467	missense variant	A/G	snv	9.9E-05	1.0E-04	2
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
rs10931910	AOX1	0.925	0.040	2	200659013	intron variant	A/G;T	snv			2
rs6413463	CDKN2A	1.000	0.040	9	21970990	missense variant	A/G;T	snv	2.9E-05; 3.0E-04		1
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs121913227	BRAF	0.653	0.320	7	140753336	missense variant	AC/CT;TT	mnv			31
rs1470755915	RUNX1T1	0.776	0.240	8	92005229	missense variant	C/A	snv		7.0E-06	10
rs927698341	RUNX1T1	0.776	0.240	8	92005280	synonymous variant	C/A	snv	4.0E-06	2.8E-05	10
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9
rs10740055	ARID5B	0.790	0.240	10	61958720	intron variant	C/A	snv		0.49	7
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73