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
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
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			6
rs10740055	ARID5B	0.790	0.240	10	61958720	intron variant	C/A	snv		0.49	7
rs10821936	ARID5B	0.742	0.200	10	61963818	intron variant	C/T	snv		0.69	11
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
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
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
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
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9
rs869312953	JAK1	0.851	0.120	1	64846735	missense variant	G/T	snv			5
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
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60