DisGeNET - a database of gene-disease associations

List of associated variants

Chronic myeloproliferative disorder, C1292778

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
rs12340895	INSL6 ; JAK2	1.000	0.080	9	5076691	intron variant	C/A;G	snv			1
rs59384377	INSL6 ; JAK2	1.000	0.080	9	5005034	intron variant	A/T	snv		0.26	1
rs764634461	JAK2 ; INSL6	1.000	0.080	9	5072516	missense variant	T/G	snv	1.2E-05	2.8E-05	1
rs1057519752	MPL	1.000	0.080	1	43349307	missense variant	A/C;G;T	snv			1
rs1441084781	TLR4	1.000	0.080	9	117712543	missense variant	G/A;T	snv	4.0E-06		1
rs4858647		0.925	0.080	3	24749884	intron variant	C/A;G;T	snv			2
rs1200469268	ABCA1	0.925	0.080	9	104830968	missense variant	C/A	snv		7.0E-06	2
rs529311209	SGSM3	0.925	0.120	22	40409754	missense variant	G/A;C;T	snv	3.3E-05; 8.2E-06		2
rs3733609	TET2 ; TET2-AS1	1.000	0.080	4	105269705	missense variant	T/A;C	snv	6.4E-06; 3.4E-02		2
rs2201862		0.925	0.080	3	168930251	downstream gene variant	T/C	snv		0.63	3
rs562533120	HBS1L	0.882	0.080	6	134966397	missense variant	A/C	snv	8.0E-06		3
rs12339666	INSL6 ; JAK2	0.925	0.080	9	5063296	intron variant	G/T	snv		0.34	3
rs4495487	INSL6 ; JAK2	0.925	0.080	9	5072798	intron variant	T/C	snv		0.23	3
rs121912473	JAK2 ; INSL6	0.925	0.080	9	5070026	missense variant	AA/TT	mnv			3
rs121913504	JAK3	0.882	0.080	19	17837200	missense variant	G/A	snv			3
rs17292650	MPL	0.882	0.120	1	43338136	missense variant	G/T	snv	3.5E-03	1.4E-02	3
rs17849241	SOCS3 ; LOC101928674	0.925	0.080	17	78358688	missense variant	G/C;T	snv	4.1E-06; 2.1E-04		3
rs1259653415	TFRC	1.000	0.080	3	196071416	missense variant	T/C	snv		7.0E-06	3
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
rs121913520	KIT	1.000	0.080	4	54727443	missense variant	G/A	snv			4
rs778767225	MOK	0.851	0.200	14	102231805	missense variant	C/A	snv	2.4E-05	7.0E-06	4
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
rs556915505	MECOM	0.851	0.080	3	169143780	missense variant	T/C	snv	4.0E-06	7.0E-06	5