JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Platelet Count measurement ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs150221602
rs150221602 		1.000 0.040 9 5081828 missense variant G/C snv 4.2E-04 5.4E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs41316003
rs41316003 		1.000 0.040 9 5126343 missense variant G/A;C snv 4.4E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs58788809
rs58788809 		9 5038597 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7869668
rs7869668 		9 5069837 intron variant G/A snv 0.61
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018