DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: ABL1 ×

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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			23
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			5
rs121913448	ABL1	0.827	0.120	9	130862976	missense variant	G/A	snv			5
rs1290923018	ZNRD2 ; ZNRD2-AS1 ; FAM89B	0.851	0.160	11	65570699	missense variant	G/A	snv	4.0E-06		5
rs121913451	ABL1	0.851	0.160	9	130872903	missense variant	C/A;G	snv			4
rs1057519773	ABL1	0.851	0.160	9	130872901	missense variant	T/A;C;G	snv			4
rs121913452	ABL1	0.851	0.080	9	130873027	missense variant	T/A;C;G	snv			4
rs2306969	LOC101928844 ; FUT3	0.925	0.040	19	5851790	intron variant	A/G	snv		0.76	4
rs1210484348	ABL1	0.925	0.080	9	130884973	missense variant	C/T	snv		7.0E-06	3
rs1314838108	ABL1	0.925	0.160	9	130854977	missense variant	G/A	snv		7.0E-06	2
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			2
rs121913454	ABL1	0.925	0.080	9	130874969	missense variant	A/G	snv			2
rs121913460	ABL1	0.925	0.080	9	130862971	missense variant	A/T	snv			2
rs1057519771	ABL1	1.000	0.080	9	130872201	missense variant	G/C	snv			2
rs1192565382	ABL1	0.925	0.080	9	130884389	missense variant	C/T	snv	4.1E-06		2
rs121913457	ABL1	1.000	0.080	9	130873004	missense variant	T/C	snv			1
rs121913456	ABL1	1.000	0.080	9	130862943	missense variant	A/G	snv			1
rs34549764	ABL1	1.000	0.080	9	130862953	missense variant	A/G	snv	2.6E-03	2.5E-03	1
rs1064156	ABL1	1.000	0.080	9	130878519	missense variant	G/A	snv	4.0E-06		1
rs946486	ABL1			9	130770618	intron variant	C/T	snv		0.44	1
rs773475680	ABL1	1.000	0.080	9	130884139	missense variant	C/T	snv	4.0E-06		1
rs4740363	ABL1	1.000	0.080	9	130753797	intron variant	A/G	snv		7.8E-02	1
rs773795578	ABL1	1.000	0.040	9	130714356	missense variant	A/G	snv	4.0E-06		1