DisGeNET - a database of gene-disease associations

List of associated variants

Hematologic Neoplasms, C0376545

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
rs1057520014	CSF1R			5	150073480	missense variant	C/A	snv			1
rs2285489	ADAMTS13			9	133424254	intron variant	T/C	snv		0.68	2
rs770692189	BCL2L11 ; MIR4435-2HG	1.000	0.120	2	111123957	missense variant	G/A;T	snv	1.6E-05; 4.0E-06		2
rs387906664	CBL	1.000		11	119278220	missense variant	T/C;G	snv			2
rs1800023	CCR5 ; CCR5AS	1.000	0.040	3	46370817	intron variant	A/G	snv		0.29	2
rs1057519802	CSF1R			5	150061765	missense variant	A/C	snv			2
rs121913390	CSF1R			5	150073481	stop gained	A/G;T	snv			2
rs121913393	CSF1R			5	150054083	missense variant	A/G	snv			2
rs1801271	CSF1R			5	150054082	missense variant	T/A;C	snv			2
rs78245253	GATA2	1.000		3	128485850	missense variant	G/A;C	snv	4.0E-06; 5.0E-03		2
rs1114167651	PTEN	1.000	0.160	10	87933107	missense variant	C/A;T	snv	4.0E-06		2
rs1239105602	PTEN ; KLLN	1.000	0.160	10	87864168	5 prime UTR variant	C/T	snv			2
rs917927904	PTEN ; KLLN	1.000	0.160	10	87864242	5 prime UTR variant	G/T	snv		7.0E-06	2
rs767464424	CEBPZ	0.925	0.080	2	37222420	frameshift variant	T/-	delins	4.2E-06		3
rs777017502	CEBPZ	0.925	0.080	2	37222420	missense variant	T/C;G	snv	4.2E-06; 4.2E-06		3
rs724159945	ETV6	1.000		12	11885968	missense variant	C/A;T	snv			3
rs724159946	ETV6	1.000		12	11884541	missense variant	G/A	snv		7.0E-06	3
rs757874631	CBL	0.882	0.120	11	119278211	missense variant	T/A;C	snv			4
rs779530981	PTEN	1.000	0.160	10	87933035	missense variant	C/A	snv			4
rs1057519766	FLT3	0.851	0.080	13	28028203	missense variant	G/C;T	snv			5
rs724159947	ETV6	0.851	0.120	12	11869601	missense variant	C/T	snv			6
rs757333753	RAF1	0.851	0.200	3	12618681	missense variant	C/A;T	snv	4.0E-06		6
rs3921	CXCL10 ; ART3	0.807	0.240	4	76021790	3 prime UTR variant	C/G	snv		0.61	8
rs7656411	TLR2	0.790	0.320	4	153706503	downstream gene variant	T/G	snv		0.35	8
rs267606706	CBL	0.807	0.240	11	119278181	missense variant	T/A;C	snv	8.0E-06		9