DisGeNET - a database of gene-disease associations

List of shared variants

Precursor Cell Lymphoblastic Leukemia Lymphoma, C1961102

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs10821936	ARID5B	0.742	0.200	10	61963818	intron variant	C/T	snv		0.69	11
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
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			6
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5