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
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		181
rs12343867	INSL6 ; JAK2	0.790	0.200	9	5074189	intron variant	T/C	snv		0.25	9
rs368927897	JAK2 ; INSL6	0.790	0.240	9	5072541	missense variant	G/A;T	snv	2.8E-05; 6.4E-05		8
rs182123615	JAK2 ; INSL6	0.807	0.200	9	5070058	splice region variant	T/C	snv	3.6E-04	1.1E-03	7
rs12342421	JAK2 ; INSL6	0.851	0.080	9	5065750	intron variant	G/C	snv		0.23	4
rs10974944	JAK2 ; INSL6	0.882	0.160	9	5070831	intron variant	C/G	snv		0.25	4
rs1057520016	JAK2 ; INSL6	0.851	0.080	9	5089726	missense variant	C/A;T	snv			4
rs2230724	JAK2 ; INSL6	0.851	0.120	9	5081780	synonymous variant	G/A	snv	0.53	0.62	4
rs10974947	INSL6 ; JAK2	0.882	0.080	9	5072846	intron variant	G/A	snv		0.23	3
rs56118985	INSL6 ; JAK2	0.882	0.080	9	5044432	missense variant	G/A;C	snv	1.8E-03; 4.0E-06		3
rs12349785	INSL6 ; JAK2	0.882	0.080	9	5076613	intron variant	G/C	snv		0.23	3
rs4495487	INSL6 ; JAK2	0.925	0.080	9	5072798	intron variant	T/C	snv		0.23	3
rs10815148	JAK2 ; INSL6	0.882	0.080	9	5057284	intron variant	T/A	snv		0.33	3
rs10815144	JAK2 ; INSL6	0.882	0.080	9	5010192	intron variant	G/A	snv		0.62	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
rs12339666	INSL6 ; JAK2	0.925	0.080	9	5063296	intron variant	G/T	snv		0.34	2
rs1057519721	INSL6 ; JAK2	0.882	0.120	9	5078360	missense variant	A/G	snv			2
rs3808850	JAK2	0.925	0.080	9	4983311	upstream gene variant	T/A;C	snv			2
rs7849191	JAK2	0.882	0.120	9	4988761	intron variant	C/T	snv		0.50	2
rs121912473	JAK2 ; INSL6	0.925	0.080	9	5070026	missense variant	AA/TT	mnv			2
rs7046736	JAK2 ; INSL6	0.925	0.080	9	5015732	intron variant	C/A	snv		0.39	2
rs7857730	JAK2 ; INSL6	0.925	0.040	9	5084049	intron variant	G/A;T	snv		0.63	2
rs3780378	INSL6 ; JAK2	1.000	0.040	9	5112288	non coding transcript exon variant	C/T	snv		0.51	1
rs12340895	INSL6 ; JAK2	1.000	0.080	9	5076691	intron variant	C/A;G	snv			1