Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Clear Cell Hepatocellular Carcinoma
|
1 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Neoplasms, Vascular Tissue
|
1 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Chondrosarcoma
|
8 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Sinonasal undifferentiated carcinoma
|
8 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Adult Fibrosarcoma
|
9 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Fibrosarcoma
|
9 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Vascular lesions
|
9 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Primary cholangiocarcinoma of intrahepatic biliary tract
|
10 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Spindle cell hemangioma
|
10 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Enchondroma
|
13 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Intrahepatic Cholangiocarcinoma
|
19 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Secondary malignant neoplasm of lung
|
20 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Hemangioma
|
24 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||
Primary Myelofibrosis
|
29 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Adenoid Cystic Carcinoma
|
30 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
32 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Malignant neoplasm of soft tissue
|
32 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
Polycythemia Vera
|
38 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Childhood Astrocytoma
|
39 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Sarcoma
|
42 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
Brain Stem Glioma
|
45 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Astrocytoma
|
59 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.720 | 1.000 | 4 | 2009 | 2014 | ||||||
Central Nervous System Neoplasms
|
72 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Congenital Abnormality
|
73 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
MYELODYSPLASTIC SYNDROME
|
95 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2012 | 2016 |