DisGeNET - a database of gene-disease associations

List of associated variants

Polycythemia Vera, C0032463

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
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs201478192	KIDINS220	0.790	0.200	2	8731667	missense variant	C/A	snv	2.4E-04	2.6E-04	12
rs17849241	SOCS3 ; LOC101928674	0.925	0.080	17	78358688	missense variant	G/C;T	snv	4.1E-06; 2.1E-04		3
rs775387828	NFE2	0.851	0.200	12	54293083	missense variant	G/A	snv	2.2E-05	7.0E-06	7
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs562533120	HBS1L	0.882	0.080	6	134966397	missense variant	A/C	snv	8.0E-06		3
rs754190776	HBG2	0.925	0.080	11	5253350	missense variant	G/A	snv	8.0E-06		2
rs780178275	VHL	0.851	0.200	3	10146586	missense variant	C/T	snv	8.0E-06		7
rs1253570532	RUNX1	0.925	0.080	21	34792289	missense variant	G/A	snv	7.0E-06		2
rs777342222	EGFR	1.000	0.080	7	55155925	missense variant	T/C	snv	4.0E-06		1
rs773475680	ABL1	1.000	0.080	9	130884139	missense variant	C/T	snv	4.0E-06		1
rs772889171	RUNX1	0.925	0.080	21	34834487	missense variant	G/A	snv	4.0E-06		2
rs766642690	MPL	1.000	0.080	1	43352635	missense variant	T/C;G	snv	4.0E-06		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
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			51
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv			11
rs9376092	LOC105378010	0.851	0.120	6	135106006	upstream gene variant	C/A	snv		0.24	10
rs1057519753	JAK1	0.763	0.120	1	64846664	missense variant	C/A	snv			9