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
rs1057519802	CSF1R			5	150061765	missense variant	A/C	snv			2
rs1319313254	JAK2 ; INSL6			9	5050807	missense variant	C/T	snv	4.0E-06		1
rs1378379005	CALR ; MIR6515			19	12938723	missense variant	C/G;T	snv	2.1E-05		1
rs147368353	MIR6515 ; CALR			19	12938729	missense variant	C/G;T	snv	6.3E-05; 5.8E-05		1
rs1476891431	MPL			1	43337895	missense variant	C/T	snv			1
rs796065343	CSF3R	0.776	0.080	1	36467833	missense variant	G/A	snv			12
rs1057520016	JAK2 ; INSL6	0.851	0.080	9	5089726	missense variant	C/A;T	snv			5
rs556915505	MECOM	0.851	0.080	3	169143780	missense variant	T/C	snv	4.0E-06	7.0E-06	5
rs12339666	INSL6 ; JAK2	0.925	0.080	9	5063296	intron variant	G/T	snv		0.34	3
rs17849241	SOCS3 ; LOC101928674	0.925	0.080	17	78358688	missense variant	G/C;T	snv	4.1E-06; 2.1E-04		3
rs2201862		0.925	0.080	3	168930251	downstream gene variant	T/C	snv		0.63	3
rs4495487	INSL6 ; JAK2	0.925	0.080	9	5072798	intron variant	T/C	snv		0.23	3
rs3733609	TET2 ; TET2-AS1	1.000	0.080	4	105269705	missense variant	T/A;C	snv	6.4E-06; 3.4E-02		2
rs121913616	MPL	0.790	0.120	1	43349337	missense variant	TG/AA	mnv			8
rs1057519721	INSL6 ; JAK2	0.882	0.120	9	5078360	missense variant	A/G	snv			4
rs10974944	JAK2 ; INSL6	0.882	0.160	9	5070831	intron variant	C/G	snv		0.25	4
rs201478192	KIDINS220	0.790	0.200	2	8731667	missense variant	C/A	snv	2.4E-04	2.6E-04	12
rs12343867	INSL6 ; JAK2	0.790	0.200	9	5074189	intron variant	T/C	snv		0.25	9
rs182123615	JAK2 ; INSL6	0.807	0.200	9	5070058	splice region variant	T/C	snv	3.6E-04	1.1E-03	7
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs16754	WT1	0.732	0.240	11	32396399	synonymous variant	T/C	snv	0.24; 4.0E-06	0.17	15
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			12
rs368927897	JAK2 ; INSL6	0.790	0.240	9	5072541	missense variant	G/A;T	snv	2.8E-05; 6.4E-05		9
rs1057519819	MAP2K1	0.851	0.240	15	66436750	missense variant	T/C	snv			6
rs148636776	ATXN2 ; SH2B3	0.790	0.280	12	111447491	missense variant	G/A	snv	1.5E-04	2.4E-04	18