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: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Hemic and Lymphatic Diseases; Neoplasms 0.900 0.941 237 2005 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.900 0.947 27 2005 2016
dbSNP: rs10974944
rs10974944
0.878 0.143 9 5070831 intron variant C/G snp 0.26
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.810 1.000 2 2009 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.800 0.969 159 2005 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.800 0.987 155 2005 2017
dbSNP: rs121912472
rs121912472
1.000 0.036 9 5073742 missense variant G/C snp
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.800 1 2006 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
0.800 1 2012 2012
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Hemic and Lymphatic Diseases; Neoplasms 0.770 1.000 8 2005 2017
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
Cardiovascular Diseases; Digestive System Diseases 0.760 1.000 9 2006 2016
dbSNP: rs1057519721
rs1057519721
1.000 0.107 9 5078360 missense variant A/G snp
Acute lymphoblastic leukemia with lymphomatous features
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.700 4 2008 2013
dbSNP: rs1057519722
rs1057519722
1.000 0.107 9 5078361 missense variant G/C snp 4.0E-06
Acute lymphoblastic leukemia with lymphomatous features
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.700 4 2008 2013
dbSNP: rs1057519723
rs1057519723
1.000 0.107 9 5078362 missense variant A/C,G,T snp
Acute lymphoblastic leukemia with lymphomatous features
Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms 0.700 4 2008 2013
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snp 0.24
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1 2017 2017
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snp 0.24
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1 2017 2017
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snp 0.24
CUI: C0750879
Disease: Eosinophil count result
Eosinophil count result
0.700 1 2017 2017
dbSNP: rs1057519721
rs1057519721
1.000 0.107 9 5078360 missense variant A/G snp
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1 2010 2010
dbSNP: rs1057520016
rs1057520016
9 5089726 stop gained C/A,T snp
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1 2010 2010
dbSNP: rs10815146
rs10815146
9 5015901 intron variant T/A,C,G snp 0.62
CUI: C0474566
Disease: Platelet hematocrit measurement
Platelet hematocrit measurement
0.700 1 2017 2017
dbSNP: rs121912472
rs121912472
1.000 0.036 9 5073742 missense variant G/C snp
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
0.700 1 2006 2006
dbSNP: rs121912473
rs121912473
0.923 0.071 9 5070026 missense variant AA/TT multinucleotide-polymorphism
ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC
0.700 1 2007 2007
dbSNP: rs12339666
rs12339666
9 5063296 intron variant G/T snp 0.34
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1 2016 2016
dbSNP: rs150221602
rs150221602
9 5081828 missense variant G/C snp 4.2E-04 6.7E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1 2017 2017
dbSNP: rs150221602
rs150221602
9 5081828 missense variant G/C snp 4.2E-04 6.7E-04
CUI: C0474566
Disease: Platelet hematocrit measurement
Platelet hematocrit measurement
0.700 1 2017 2017
dbSNP: rs16922576
rs16922576
9 5064193 intron variant T/C snp 0.26
CUI: C0020517
Disease: Hypersensitivity
Hypersensitivity
Immune System Diseases 0.700 1 2017 2017
dbSNP: rs1887428
rs1887428
1.000 0.071 9 4984530 5 prime UTR variant G/C,T snp 0.69; 1.3E-04; 6.4E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Immune System Diseases; Skin and Connective Tissue Diseases 0.700 1 2017 2017