DisGeNET - a database of gene-disease associations

List of associated variants

Thrombocythemia, Essential, C0040028

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
rs121913454	ABL1	0.925	0.080	9	130874969	missense variant	A/G	snv			2
rs111340708	ATXN2 ; SH2B3	0.925	0.080	12	111447548	intron variant	TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG	delins		0.52	2
rs918140013	ATXN2 ; SH2B3	0.925	0.080	12	111447663	missense variant	G/A	snv		7.0E-06	2
rs552479055	CASP7	1.000	0.040	10	113726306	missense variant	C/T	snv	4.0E-06		1
rs1268279596	CASP9	1.000	0.040	1	15495419	missense variant	G/A	snv	8.5E-06		1
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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs12343867	INSL6 ; JAK2	0.790	0.200	9	5074189	intron variant	T/C	snv		0.25	9
rs10974947	INSL6 ; JAK2	0.882	0.080	9	5072846	intron variant	G/A	snv		0.23	3
rs3808850	JAK2	0.925	0.080	9	4983311	upstream gene variant	T/A;C	snv			2
rs1057520016	JAK2 ; INSL6	0.851	0.080	9	5089726	missense variant	C/A;T	snv			5
rs12342421	JAK2 ; INSL6	0.851	0.080	9	5065750	intron variant	G/C	snv		0.23	5
rs10815148	JAK2 ; INSL6	0.882	0.080	9	5057284	intron variant	T/A	snv		0.33	3
rs7046736	JAK2 ; INSL6	0.925	0.080	9	5015732	intron variant	C/A	snv		0.39	2
rs201478192	KIDINS220	0.790	0.200	2	8731667	missense variant	C/A	snv	2.4E-04	2.6E-04	12
rs9376092	LOC105378010	0.851	0.120	6	135106006	upstream gene variant	C/A	snv		0.24	10
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs121913616	MPL	0.790	0.120	1	43349337	missense variant	TG/AA	mnv			8
rs121913614	MPL	0.790	0.120	1	43349308	missense variant	G/A	snv			7
rs750046020	MPL	0.827	0.080	1	43338646	missense variant	C/G;T	snv	8.0E-06; 8.0E-05		6
rs146249964	MPL	0.851	0.080	1	43337929	splice donor variant	T/A	snv	4.0E-04	1.7E-04	5
rs28928907	MPL	0.882	0.160	1	43338634	missense variant	G/A;C	snv	8.0E-06; 3.8E-04		4