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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple Myeloma
|
865 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Neoplasm Metastasis
|
327 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Nevus
|
43 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Nevus sebaceous
|
4 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
Nevus Sebaceus of Jadassohn
|
7 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
Noonan syndrome-like disorder with loose anagen hair
|
3 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Organoid Nevus Phakomatosis
|
9 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||||
Retinal Dystrophies
|
227 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Rhabdomyosarcoma
|
20 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Squamous cell carcinoma of lung
|
283 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of skin
|
92 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of the head and neck
|
348 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Thyroid carcinoma
|
145 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Transitional cell carcinoma of bladder
|
158 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Trichoepithelioma
|
3 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Uterine Cervical Neoplasm
|
72 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
GIANT PIGMENTED HAIRY NEVUS
|
6 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Malignant neoplasm of urinary bladder
|
316 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
NEVUS SPILUS, SOMATIC
|
1 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Noonan Syndrome 1
|
83 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
SPITZ NEVUS, SOMATIC
|
1 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
THYROID CANCER, NONMEDULLARY, 2
|
13 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 |