DisGeNET - a database of gene-disease associations

List of associated variants

Precursor Cell Lymphoblastic Leukemia Lymphoma, C1961102

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs775144154	SLC19A1	0.627	0.600	21	45531904	missense variant	C/A;T	snv	9.7E-06; 1.4E-05		38
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs368087026	SLC19A1	0.637	0.520	21	45530890	missense variant	G/A	snv			33
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs2043211	CARD8	0.653	0.480	19	48234449	missense variant	A/T	snv	0.33	0.29	29
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25