DisGeNET - a database of gene-disease associations

List of associated variants

leukemia, C0023418

Source: ALL

Results per page

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
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	24
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs174538	TMEM258 ; MIR611 ; FEN1	0.701	0.440	11	61792609	5 prime UTR variant	G/A	snv	0.34	0.26	21
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs564398	CDKN2B-AS1	0.716	0.360	9	22029548	3 prime UTR variant	T/C	snv	0.31	0.28	18
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
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
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
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			14
rs2228014	CXCR4	0.752	0.240	2	136115514	synonymous variant	G/A	snv	4.6E-02	3.5E-02	14
rs1801280	NAT2	0.716	0.440	8	18400344	missense variant	T/C	snv	0.38	0.39	14
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		13
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			12
rs121913521	KIT	0.790	0.120	4	54727447	missense variant	T/A;C;G	snv			12