DisGeNET - a database of gene-disease associations

List of shared variants

Acute lymphocytic leukemia, C0023449

Disease: Leukemia, Myelocytic, Acute

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs10821936	ARID5B	0.742	0.200	10	61963818	intron variant	C/T	snv		0.69	11
rs10994982	ARID5B	0.790	0.120	10	61950345	intron variant	A/G	snv		0.49	7
rs7089424	ARID5B	0.752	0.200	10	61992400	intron variant	T/G	snv		0.32	10
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs2239633	CEBPE	0.742	0.240	14	23119848	upstream gene variant	G/A	snv		0.38	12
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs121909646	FLT3	0.882	0.120	13	28018504	missense variant	T/A;G	snv			3
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7
rs11545078	GGH	0.807	0.200	8	63026205	missense variant	G/A	snv	8.8E-02	7.8E-02	6
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs35201683	HFE	0.732	0.360	6	26094205	stop gained	C/A;T	snv	1.4E-03		12
rs780246573	HFE ; LOC108783645	0.732	0.360	6	26092860	stop gained	C/G;T	snv	4.0E-06; 8.0E-06		12
rs797045145	HFE ; LOC108783645	0.807	0.240	6	26091479	stop gained	G/A	snv			6
rs17213693	HLA-DOB	0.925	0.120	6	32813344	intron variant	G/C	snv		9.8E-02	2
rs2430561	IFNG ; IFNG-AS1	0.590	0.760	12	68158742	intron variant	T/A	snv		0.36	50
rs11978267	IKZF1	0.763	0.240	7	50398606	intron variant	A/G	snv		0.25	9
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52