DisGeNET - a database of gene-disease associations

List of associated variants

leukemia, C0023418

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
rs397507476	BRAF	0.882	0.200	7	140778011	missense variant	T/A;G	snv			4
rs765669662	CA3-AS1 ; CA2	0.925	0.040	8	85465317	missense variant	G/A;T	snv	2.0E-05; 4.0E-06		2
rs2308950	CASP9	0.882	0.040	1	15507011	missense variant	C/G;T	snv	4.0E-06; 1.1E-02		3
rs387906666	CBL	0.827	0.080	11	119278182	missense variant	A/C;G	snv			5
rs3116496	CD28	0.776	0.160	2	203729789	intron variant	T/C	snv	0.15	0.14	11
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		27
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs6413463	CDKN2A	1.000	0.040	9	21970990	missense variant	A/G;T	snv	2.9E-05; 3.0E-04		1
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
rs754944509	CNTNAP1	0.851	0.080	17	42690793	missense variant	C/T	snv	4.4E-05		4
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs1258094111	CTSG	0.925	0.040	14	24575388	missense variant	C/T	snv	4.0E-06		2
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs2228014	CXCR4	0.752	0.240	2	136115514	synonymous variant	G/A	snv	4.6E-02	3.5E-02	14
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs1408538785	DNAH8	0.827	0.080	6	38761760	missense variant	A/G	snv		7.0E-06	6
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs387906553	ELANE	0.827	0.120	19	853022	missense variant	G/A;C	snv	1.2E-05		6
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv		0.45	16
rs201820837	ETV6	0.925	0.040	12	11869532	missense variant	G/A;T	snv	2.4E-05; 6.4E-05		2