Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 GeneticVariation UNIPROT Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential. 16603627

2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 GeneticVariation UNIPROT A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. 15793561

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 GeneticVariation UNIPROT A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. 15781101

2005
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.900 GeneticVariation UNIPROT A gain-of-function mutation of JAK2 in myeloproliferative disorders. 15858187

2005