DisGeNET - a database of gene-disease associations

List of shared variants

Acute lymphocytic leukemia, C0023449

Disease: leukemia

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
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
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
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
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
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
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1057519866	NT5C2	0.851	0.120	10	103093198	missense variant	C/T	snv			5
rs10821936	ARID5B	0.742	0.200	10	61963818	intron variant	C/T	snv		0.69	11
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs2413739	PACSIN2	0.827	0.120	22	43001030	intron variant	C/T	snv		0.43	6
rs11545078	GGH	0.807	0.200	8	63026205	missense variant	G/A	snv	8.8E-02	7.8E-02	6
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262