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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs8192284	IL6R	0.724	0.720	1	154454494	missense variant	A/C;T	snv			19
rs1057520009	XPO1	0.790	0.200	2	61492337	missense variant	C/T	snv	4.4E-06		14
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
rs770692189	BCL2L11 ; MIR4435-2HG	1.000	0.120	2	111123957	missense variant	G/A;T	snv	1.6E-05; 4.0E-06		2
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs757333753	RAF1	0.851	0.200	3	12618681	missense variant	C/A;T	snv	4.0E-06		6
rs1800023	CCR5 ; CCR5AS	1.000	0.040	3	46370817	intron variant	A/G	snv		0.29	2
rs78245253	GATA2	1.000		3	128485850	missense variant	G/A;C	snv	4.0E-06; 5.0E-03		2
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
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv			24
rs5743551	TLR1	0.742	0.240	4	38806033	intron variant	T/A;C	snv			12
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			9
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
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
rs1057520014	CSF1R			5	150073480	missense variant	C/A	snv			1