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)
|
16 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.900 | 1.000 | 14 | 2005 | 2018 | ||||||
Adult Fibrosarcoma
|
9 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Adult Rhabdomyosarcoma
|
12 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Childhood Rhabdomyosarcoma
|
12 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Fibrosarcoma
|
9 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Rhabdomyosarcoma
|
17 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Thyroid Nodule
|
11 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Cardio-facio-cutaneous syndrome
|
17 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Noonan Syndrome
|
65 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Cutis Laxa
|
12 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Malignant Neoplasms
|
1441 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | ||||||
Primary malignant neoplasm
|
1374 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2020 | ||||||
Familial medullary thyroid carcinoma
|
33 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Medullary carcinoma of thyroid
|
66 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Neoplasms
|
1571 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||||
Carcinoma of lung
|
995 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
melanoma
|
352 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Respiratory distress
|
6 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Brain Neoplasms
|
85 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Noonan syndrome-like disorder with loose anagen hair
|
3 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Alveolar rhabdomyosarcoma
|
1 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Neoplasm, Residual
|
23 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
NEVUS, EPIDERMAL (disorder)
|
4 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 |