DisGeNET - a database of gene-disease associations

List of associated variants

Myeloproliferative disease, C0027022

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			73
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs121913682	KIT	0.605	0.400	4	54733167	missense variant	A/G;T	snv			52
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			49
rs727503094	LRRC56 ; HRAS	0.633	0.440	11	534287	missense variant	GC/AG;AT;TA;TT	mnv			41
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs12980275		0.701	0.360	19	39241143	upstream gene variant	A/G	snv		0.36	23
rs148636776	ATXN2 ; SH2B3	0.790	0.280	12	111447491	missense variant	G/A	snv	1.5E-04	2.4E-04	18
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs16754	WT1	0.732	0.240	11	32396399	synonymous variant	T/C	snv	0.24; 4.0E-06	0.17	15
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
rs121918462	PTPN11	0.742	0.320	12	112450398	missense variant	C/T	snv			13
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs201478192	KIDINS220	0.790	0.200	2	8731667	missense variant	C/A	snv	2.4E-04	2.6E-04	12
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			12
rs12343867	INSL6 ; JAK2	0.790	0.200	9	5074189	intron variant	T/C	snv		0.25	9