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
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
rs2285489	ADAMTS13			9	133424254	intron variant	T/C	snv		0.68	2
rs1057520014	CSF1R			5	150073480	missense variant	C/A	snv			1
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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs909253	LTA ; LOC100287329	0.641	0.600	6	31572536	intron variant	A/G;T	snv			34
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			29
rs11536889	TLR4	0.658	0.560	9	117715853	3 prime UTR variant	G/C	snv		0.11	27
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26