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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Juvenile Myelomonocytic Leukemia
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.820 | 1.000 | 8 | 2005 | 2019 | ||||||
Carcinoma of lung
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 0.933 | 3 | 2010 | 2019 | ||||||
Non-Small Cell Lung Carcinoma
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.790 | 1.000 | 17 | 2002 | 2019 | ||||||
Pancreatic carcinoma
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.740 | 1.000 | 0 | 2003 | 2019 | ||||||
Organoid Nevus Phakomatosis
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.730 | 1.000 | 0 | 2012 | 2019 | ||||||
ovarian neoplasm
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 8 | 2005 | 2011 | ||||||
Leukemia, Myelocytic, Acute
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 5 | 1987 | 2014 | ||||||
Arteriovenous Malformations, Cerebral
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||||
NEVUS, EPIDERMAL (disorder)
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 0 | 2010 | 2010 | ||||||
Stomach Neoplasms
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 0 | 2015 | 2015 | ||||||
Colorectal Neoplasms
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2005 | 2014 | ||||||
Thyroid Neoplasm
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2013 | ||||||
Gastrointestinal Stromal Tumors
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
Nevus sebaceous
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
increased risk of pancreatic cancer
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
Multiple Myeloma
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
Nevus Sebaceus of Jadassohn
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
Primary low grade serous adenocarcinoma of ovary
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 |