DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

Source: UNIPROT ×

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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
rs267607040	SETBP1	0.851	0.320	18	44951948	missense variant	G/A	snv			4
rs267607042	SETBP1	0.851	0.320	18	44951942	missense variant	G/A;C	snv			4
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		3
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			2
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		2
rs267607038	SETBP1	0.882	0.320	18	44951952	missense variant	T/C;G	snv	8.0E-06		2
rs121913370	BRAF	0.763	0.360	7	140753393	missense variant	T/C;G	snv			1
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			1
rs1178702025	SETBP1	1.000	0.080	18	44951912	missense variant	G/A	snv			1