DisGeNET - a database of gene-disease associations

List of associated variants

leukemia, C0023418

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
rs121913521	KIT	0.790	0.120	4	54727447	missense variant	T/A;C;G	snv			12
rs748843032	MTTP	0.807	0.160	4	99594840	missense variant	T/C	snv	4.0E-06		8
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2070874	IL4	0.672	0.560	5	132674018	5 prime UTR variant	C/T	snv	0.28	0.28	27
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs869312828	DDX41 ; DOK3	0.807	0.080	5	177512369	missense variant	C/T	snv			7
rs10065633	IRF1-AS1	1.000	0.040	5	132481024	intron variant	T/C	snv		0.38	1
rs113017087	APC	1.000	0.040	5	112737780	intron variant	T/C	snv		5.4E-03	1
rs115658307	APC	1.000	0.040	5	112707537	5 prime UTR variant	C/T	snv		4.8E-03	1
rs138386816	APC	1.000	0.040	5	112707566	5 prime UTR variant	C/T	snv		7.2E-03	1
rs75612255	APC	1.000	0.040	5	112737543	intron variant	T/C	snv			1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv		0.45	16
rs1408538785	DNAH8	0.827	0.080	6	38761760	missense variant	A/G	snv		7.0E-06	6
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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214