DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Acute Lymphoblastic Leukemia, C0023452

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	Num. diseases
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06	490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75	246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv		213
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06	102
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02	97
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv		82
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06	79
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02	78
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv		62
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12	56
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05	55
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02	49
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05	42
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06	41
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
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06	38
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27	30
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02	26
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05	26