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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Costello syndrome (disorder)
|
24 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 10 | 2005 | 2017 | ||||||
Alopecia
|
375 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
Cardiomyopathies, Primary
|
1 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
Facial wart
|
2 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
Global developmental delay
|
553 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
Palmoplantar Keratosis
|
6 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
Malignant tumor of colon
|
688 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Autoimmune Lymphoproliferative Syndrome
|
22 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Hematologic Neoplasms
|
60 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Thymoma
|
20 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 3 | 2009 | 2014 | ||||||
Neoplasms
|
1644 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||||
Adenocarcinoma of lung (disorder)
|
563 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adenocarcinoma of pancreas
|
138 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Chronic Lymphocytic Leukemia
|
291 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Colorectal Neoplasms
|
609 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Cutaneous Melanoma
|
248 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Gastric Adenocarcinoma
|
235 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Leukemia, Myelocytic, Acute
|
6892 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Liver carcinoma
|
942 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant Uterine Corpus Neoplasm
|
152 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Mammary Neoplasms
|
385 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Multiple Myeloma
|
865 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of lung
|
283 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of skin
|
92 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of the head and neck
|
348 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |