DisGeNET - a database of gene-disease associations

List of associated variants

leukemia, C0023418

Source: CLINVAR ×

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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
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		12
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			12
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		12
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		10
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		9
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	8
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		7
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			7
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		6
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	6
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		6
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			4
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		4
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			3
rs121913461	ABL1	0.851	0.120	9	130862970	missense variant	T/C	snv			3
rs397507476	BRAF	0.882	0.200	7	140778011	missense variant	T/A;G	snv			3
rs387906666	CBL	0.827	0.080	11	119278182	missense variant	A/C;G	snv			3
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			3
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	3
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		3
rs387906517	ABL1	0.827	0.120	9	130862919	missense variant	G/A	snv			2