DisGeNET - a database of gene-disease associations

List of associated variants

Chronic eosinophilic leukemia, C0346421

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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs121913459	ABL1	0.672	0.160	9	130872896	missense variant	C/T	snv			25
rs3822214	KIT	0.732	0.240	4	54727298	missense variant	A/C;G;T	snv	7.7E-02; 8.0E-06		13
rs121908585	PDGFRA	0.827	0.080	4	54285926	missense variant	A/T	snv			9
rs121908587	PDGFRA	0.827	0.120	4	54278380	missense variant	C/T	snv			6
rs1360131632	STAT5A	0.827	0.080	17	42301316	missense variant	C/T	snv	4.0E-06		6
rs1192565382	ABL1	0.925	0.080	9	130884389	missense variant	C/T	snv	4.1E-06		2