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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			29
rs1057519766	FLT3	0.851	0.080	13	28028203	missense variant	G/C;T	snv			5
rs1057519802	CSF1R			5	150061765	missense variant	A/C	snv			2
rs1057520009	XPO1	0.790	0.200	2	61492337	missense variant	C/T	snv	4.4E-06		14
rs1057520014	CSF1R			5	150073480	missense variant	C/A	snv			1
rs1114167651	PTEN	1.000	0.160	10	87933107	missense variant	C/A;T	snv	4.0E-06		2
rs112445441	KRAS	0.658	0.400	12	25245347	missense variant	C/A;G;T	snv			32
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs11536889	TLR4	0.658	0.560	9	117715853	3 prime UTR variant	G/C	snv		0.11	27
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913390	CSF1R			5	150073481	stop gained	A/G;T	snv			2
rs121913393	CSF1R			5	150054083	missense variant	A/G	snv			2
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
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			9
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121918453	PTPN11	0.732	0.280	12	112450394	missense variant	G/A;C;T	snv			19
rs121918454	PTPN11	0.742	0.280	12	112450395	missense variant	C/A;G;T	snv			17
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs1239105602	PTEN ; KLLN	1.000	0.160	10	87864168	5 prime UTR variant	C/T	snv			2
rs13347	CD44	0.763	0.320	11	35231725	3 prime UTR variant	C/A;T	snv			12
rs148704956	IL17A	0.716	0.360	6	52187772	missense variant	A/G	snv	8.0E-06	7.0E-06	19