DisGeNET - a database of gene-disease associations

List of associated variants

Acute lymphocytic leukemia, C0023449

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05		26
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv			21
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs201765376	MTR	0.732	0.360	1	236838504	synonymous variant	C/T	snv	1.6E-05	1.4E-05	12
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9
rs200890679	MTHFR	0.790	0.240	1	11795191	missense variant	C/A;G	snv	1.8E-04	2.0E-04	7
rs869312821	GNB1	0.882	0.120	1	1806515	missense variant	T/C	snv			7
rs869312953	JAK1	0.851	0.120	1	64846735	missense variant	G/T	snv			5
rs757891309	MTR	0.882	0.120	1	236850389	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		4
rs12402181	SGIP1 ; MIR3117	0.882	0.120	1	66628488	mature miRNA variant	G/A	snv	0.17	0.24	3
rs35134728	C1orf167 ; MTHFR	0.882	0.120	1	11787277	3 prime UTR variant	-/AGA	delins			3
rs3737966	C1orf167 ; MTHFR	0.882	0.120	1	11787702	3 prime UTR variant	C/T	snv		0.55	3
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115