DisGeNET - a database of gene-disease associations

List of shared variants

Chronic myeloproliferative disorder, C1292778

Disease: Primary Myelofibrosis

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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs201478192	KIDINS220	0.790	0.200	2	8731667	missense variant	C/A	snv	2.4E-04	2.6E-04	12
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
rs12342421	JAK2 ; INSL6	0.851	0.080	9	5065750	intron variant	G/C	snv		0.23	5
rs10974944	JAK2 ; INSL6	0.882	0.160	9	5070831	intron variant	C/G	snv		0.25	4
rs4858647		0.925	0.080	3	24749884	intron variant	C/A;G;T	snv			2