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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Neurocutaneous melanosis
|
2 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 0 | |||||||||
Trichilemmoma
|
4 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Congenital melanocytic nevus
|
5 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||
Hypophosphatemic Rickets
|
6 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
GIANT PIGMENTED HAIRY NEVUS
|
6 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 0 | |||||||||
Dysplastic Nevus
|
7 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Invasive Cutaneous Melanoma
|
7 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Skin Carcinogenesis
|
7 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Nevus Sebaceus of Jadassohn
|
7 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 0 | |||||||||
Carcinoma, Papillary
|
9 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Organoid Nevus Phakomatosis
|
9 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 0 | |||||||||
Solid/Multicystic Ameloblastoma
|
10 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Follicular Variant Thyroid Gland Papillary Carcinoma
|
13 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
THYROID CANCER, NONMEDULLARY, 2
|
13 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 0 | |||||||||
Familial Hypophosphatemic Rickets
|
15 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 0 | |||||||||
Secondary malignant neoplasm of bone
|
18 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
B-CELL MALIGNANCY, LOW-GRADE
|
19 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
Papilloma
|
27 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Follicular thyroid carcinoma
|
28 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||||
Nasopharyngeal Neoplasms
|
36 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Metastatic melanoma
|
42 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.030 | 1.000 | 3 | 2015 | 2016 | ||||||
Adrenocortical carcinoma
|
46 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adult Diffuse Large B-Cell Lymphoma
|
46 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
Congenital chromosomal disease
|
47 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |