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: 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
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: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
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
0.800 0.987 155 2005 2017
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
0.100 0.965 144 2005 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.100 0.975 118 2005 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis
0.100 1.000 40 2005 2017
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
0.900 0.947 27 2005 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
0.100 0.929 14 2006 2014
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.090 0.889 9 2005 2013
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
0.760 1.000 9 2006 2016
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
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: C0023418
Disease: leukemia
leukemia
0.070 0.714 7 2005 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual
0.070 1.000 7 2007 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.060 1.000 6 2006 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.050 1.000 5 2007 2014
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0002871
Disease: Anemia
Anemia
0.040 1.000 4 2006 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Myelofibrosis due to another disorder
0.040 0.500 4 2006 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.040 1.000 4 2006 2012
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia
0.030 1.000 3 2005 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
0.030 1.000 3 2005 2009
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.030 1.000 3 2006 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0027013
Disease: Myeloid Metaplasia
Myeloid Metaplasia
0.030 1.000 3 2006 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
0.030 1.000 3 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia
0.030 1.000 3 2005 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.030 0.667 3 2005 2008