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
rs80338880	TFR2	0.732	0.360	7	100633100	stop gained	G/C	snv		7.0E-06	12
rs2742038	TLX1 ; TLX1NB	0.882	0.120	10	101137330	3 prime UTR variant	C/T	snv		0.16	3
rs770998368	ERCC5 ; BIVM-ERCC5	0.827	0.240	13	102861511	missense variant	C/G;T	snv	4.0E-06		5
rs1057519866	NT5C2	0.851	0.120	10	103093198	missense variant	C/T	snv			5
rs72846714	NT5C2	1.000	0.120	10	103118697	intron variant	G/A	snv		0.15	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs861530	LOC112268131 ; XRCC3 ; KLC1	0.732	0.320	14	103707786	3 prime UTR variant	T/C	snv		0.65	13
rs76996680	LEF1	0.882	0.120	4	108163665	missense variant	G/A	snv	1.0E-03	3.4E-04	3
rs587781823	ATM	0.851	0.280	11	108284370	frameshift variant	-/T	delins			5
rs1169704167	ATM	0.882	0.120	11	108284370	frameshift variant	-/T	delins	8.0E-06		3
rs17069665	FOXO3	0.882	0.120	6	108620265	intron variant	A/C;G	snv			4
rs9400241	FOXO3	0.882	0.120	6	108682786	3 prime UTR variant	C/A;G	snv			4
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05		26
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs4938723	MIR34C ; BTG4 ; MIR34B ; LOC728196	0.574	0.680	11	111511840	intron variant	T/C	snv		0.32	60
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs200890679	MTHFR	0.790	0.240	1	11795191	missense variant	C/A;G	snv	1.8E-04	2.0E-04	7