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
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs1057519766	FLT3	0.851	0.080	13	28028203	missense variant	G/C;T	snv			5
rs2239704	LTA ; LOC100287329	0.732	0.320	6	31572364	5 prime UTR variant	A/C	snv		0.64	17
rs909253	LTA ; LOC100287329	0.641	0.600	6	31572536	intron variant	A/G;T	snv			34
rs2229094	LOC100287329 ; LTA	0.776	0.320	6	31572779	missense variant	T/C	snv	0.27	0.27	17
rs13347	CD44	0.763	0.320	11	35231725	3 prime UTR variant	C/A;T	snv			12
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
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs5743551	TLR1	0.742	0.240	4	38806033	intron variant	T/A;C	snv			12
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs1800023	CCR5 ; CCR5AS	1.000	0.040	3	46370817	intron variant	A/G	snv		0.29	2
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			29
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			9
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv			24
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs1057520009	XPO1	0.790	0.200	2	61492337	missense variant	C/T	snv	4.4E-06		14