DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, Myelocytic, Acute, C0023467

Source: CLINVAR ×

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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
rs57246956	ELANE	0.882	0.080	19	855649	missense variant	G/A;T	snv			2
rs137854451	ELANE	0.925	0.080	19	856000	missense variant	G/A	snv			1
rs387906553	ELANE	0.827	0.120	19	853022	missense variant	G/A;C	snv	1.2E-05		1
rs121434637	ETV6	1.000	0.040	12	11839202	stop gained	G/T	snv			1
rs587776710	ETV6	1.000	0.040	12	11890994	protein altering variant	-/GGG	ins			1
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		1
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	1
rs121909646	FLT3	0.882	0.120	13	28018504	missense variant	T/A;G	snv			2
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			2
rs1057519726	FLT3	1.000	0.040	13	28018502	missense variant	T/A;C;G	snv			1
rs1057519762	FLT3	1.000	0.040	13	28018484	missense variant	A/G	snv			1
rs1057519763	FLT3	1.000	0.040	13	28018504	missense variant	TC/AA	mnv			1
rs1057519764	FLT3	1.000	0.040	13	28027222	missense variant	A/C;T	snv			1
rs1057519765	FLT3	1.000	0.040	13	28027236	missense variant	T/A;C	snv	4.0E-06		1
rs1057519766	FLT3	0.851	0.080	13	28028203	missense variant	G/C;T	snv			1
rs1057519767	FLT3	1.000	0.040	13	28028205	missense variant	T/C	snv			1
rs1057519768	FLT3	1.000	0.040	13	28028279	missense variant	T/C	snv			1
rs1057519769	FLT3	1.000	0.040	13	28033974	missense variant	C/A	snv			1
rs1057520021	FLT3	1.000	0.040	13	28034139	missense variant	A/C;G	snv	4.0E-06		1
rs1057520022	FLT3	1.000	0.040	13	28034183	missense variant	A/G	snv	4.0E-06		1
rs1057520023	FLT3	1.000	0.040	13	28018501	missense variant	A/C	snv			1
rs1057520024	FLT3	1.000	0.040	13	28034147	missense variant	T/C	snv	4.0E-06; 4.0E-06		1
rs1057520025	FLT3	1.000	0.040	13	28034144	missense variant	A/G	snv			1
rs1057520026	FLT3	0.925	0.040	13	28028244	missense variant	T/G	snv			1
rs1057520043	FLT3	1.000	0.040	13	28034148	missense variant	A/C	snv			1