DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, Myelocytic, Acute, C0023467

Source: BEFREE ×

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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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213
rs1178981336	C9orf43	1.000	0.040	9	113424228	frameshift variant	-/G	delins		7.0E-06	2
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	14
rs111033563	LOC108783645 ; HFE	0.776	0.240	6	26092916	missense variant	A/C	snv	4.0E-06		8
rs3901533	CLEC7A ; LOC105369655	0.827	0.280	12	10124484	intron variant	A/C	snv		0.66	6
rs2296135	IL15RA	0.851	0.080	10	5952731	3 prime UTR variant	A/C	snv		0.58	4
rs7073837	ARID5B	0.851	0.120	10	61940136	intron variant	A/C	snv	0.58	0.64	3
rs867679539	BCORL1	0.925	0.080	X	130013883	missense variant	A/C	snv			3
rs10517030	PPARGC1A	0.925	0.120	4	23961283	intergenic variant	A/C	snv		6.9E-02	1
rs1430693582	BIVM-ERCC5 ; ERCC5	1.000	0.040	13	102862707	synonymous variant	A/C	snv	1.2E-05		1
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs213210	MIR219A1 ; RING1	0.742	0.240	6	33208047	upstream gene variant	A/C;G	snv			10
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			21
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			16
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			6
rs876660821	TP53	0.689	0.400	17	7675075	missense variant	A/C;G;T	snv			1
rs967461896	TP53	0.724	0.240	17	7675086	missense variant	A/C;G;T	snv			1
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs2304205	IRF3 ; BCL2L12	0.925	0.040	19	49665670	splice donor variant	A/C;T	snv		0.36	2
rs1057519764	FLT3	1.000	0.040	13	28027222	missense variant	A/C;T	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	187
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	107
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	91