Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		0.700 1.000 1 2010 2010
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2019 2019
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.010 1.000 1 2011 2011