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
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.060 0.833 6 2006 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.060 1.000 6 2006 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.060 0.833 6 2006 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid)
0.050 1.000 5 2006 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.050 1.000 5 2006 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis
0.050 1.000 5 2007 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0280449
Disease: secondary acute myeloid leukemia
secondary acute myeloid leukemia
0.050 0.800 5 2007 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0032461
Disease: Polycythemia
Polycythemia
0.750 1.000 5 2006 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.040 1.000 4 2007 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.040 1.000 4 2014 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease
0.040 1.000 4 2007 2009
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.040 1.000 4 2011 2015
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 1.000 4 2006 2018
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
0.040 1.000 4 2009 2014
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Myelofibrosis due to another disorder
0.040 0.750 4 2006 2010
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.040 1.000 4 2006 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
Chronic Neutrophilic Leukemia
0.040 1.000 4 2005 2013
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.040 1.000 4 2006 2019
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0002871
Disease: Anemia
Anemia
0.040 1.000 4 2006 2015
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.040 1.000 4 2007 2009
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.040 1.000 4 2009 2012
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.040 1.000 4 2005 2009
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
Refractory anemia with ringed sideroblasts
0.030 1.000 3 2006 2010
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0240912
Disease: Vertical Talus
Vertical Talus
0.030 1.000 3 2011 2017
dbSNP: rs77375493
rs77375493
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 1.000 3 2005 2013