DisGeNET - a database of gene-disease associations

List of associated variants

B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1, C1709527

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
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			21
rs748843032	MTTP	0.807	0.160	4	99594840	missense variant	T/C	snv	4.0E-06		8
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
rs121913452	ABL1	0.851	0.080	9	130873027	missense variant	T/A;C;G	snv			4
rs1407906280	MDM2	0.882	0.120	12	68839467	missense variant	C/T	snv	4.0E-06	7.0E-06	3
rs387906695	PRKAR1A ; FAM20A	0.925	0.240	17	68530283	missense variant	T/C	snv			2
rs138470268	CXADR	1.000		21	17565541	missense variant	C/T	snv	4.0E-06		1
rs375678155	INSL6 ; JAK2	1.000		9	5064922	missense variant	G/A;C;T	snv	1.7E-05; 1.7E-05; 4.2E-06		1
rs897875994	NHS	1.000		X	17721466	missense variant	C/G;T	snv			1