DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: JAK2 ×

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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
rs1159782	JAK2 ; INSL6	1.000	0.040	9	5078117	intron variant	T/C	snv		0.23	1
rs923941004	JAK2 ; INSL6	1.000	0.040	9	5078334	missense variant	T/C	snv			1
rs142269166	JAK2 ; INSL6	1.000	0.040	9	5126715	missense variant	A/G	snv	2.0E-03	2.1E-03	1
rs777015472	JAK2 ; INSL6	1.000	0.040	9	5066740	missense variant	G/A	snv	1.2E-05	7.0E-06	1
rs1392759936	JAK2 ; INSL6	1.000	0.040	9	5054778	missense variant	G/A	snv		7.0E-06	1
rs1479478620	JAK2 ; INSL6	1.000	0.040	9	5126768	missense variant	A/G	snv			1
rs759031245	JAK2 ; INSL6	1.000	0.040	9	5022025	missense variant	G/T	snv	5.2E-05		1
rs771912975	JAK2 ; INSL6	1.000	0.040	9	5055750	stop gained	C/A;G;T	snv	4.0E-06; 1.6E-05		1
rs2274471	JAK2	1.000	0.040	9	4985879	intron variant	A/G	snv		0.21	1
rs3780378	INSL6 ; JAK2	1.000	0.040	9	5112288	non coding transcript exon variant	C/T	snv		0.51	1
rs1346944271	JAK2 ; INSL6	1.000	0.120	9	5090497	missense variant	G/A	snv		1.4E-05	1
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
rs2149556	JAK2 ; INSL6	1.000	0.080	9	5059440	intron variant	C/T	snv		0.64	1
rs4372063	INSL6 ; JAK2	1.000	0.080	9	5003338	intron variant	G/A;C	snv			1
rs375678155	INSL6 ; JAK2	1.000		9	5064922	missense variant	G/A;C;T	snv	1.7E-05; 1.7E-05; 4.2E-06		1
rs41316003	INSL6 ; JAK2	1.000	0.040	9	5126343	missense variant	G/A;C	snv	4.4E-03		1
rs150221602	JAK2 ; INSL6	1.000	0.040	9	5081828	missense variant	G/C	snv	4.2E-04	5.4E-04	1
rs4495487	INSL6 ; JAK2	0.925	0.080	9	5072798	intron variant	T/C	snv		0.23	3
rs1339159756	INSL6 ; JAK2	0.925	0.120	9	5078395	missense variant	C/G	snv			2
rs121912472	INSL6 ; JAK2	0.925	0.080	9	5073742	missense variant	G/C	snv			2
rs121912473	JAK2 ; INSL6	0.925	0.080	9	5070026	missense variant	AA/TT	mnv			2
rs12339666	INSL6 ; JAK2	0.925	0.080	9	5063296	intron variant	G/T	snv		0.34	2
rs7046736	JAK2 ; INSL6	0.925	0.080	9	5015732	intron variant	C/A	snv		0.39	2