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 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
Adult Diffuse Large B-Cell Lymphoma
|
46 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Benign melanocytic nevus
|
20 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Carcinogenesis
|
355 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Colorectal Carcinoma
|
1962 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Congenital naevus
|
1 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Diffuse Large B-Cell Lymphoma
|
127 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Follicular Variant Thyroid Gland Papillary Carcinoma
|
13 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Histiocytosis, Langerhans-Cell
|
12 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Lymphoma, T-Cell, Cutaneous
|
5 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Malignant neoplasm of colon and/or rectum
|
502 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Malignant neoplasm of soft tissue
|
32 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Melanocytic nevus
|
33 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Melanomatosis
|
1 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Meningeal melanoma
|
1 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Metastatic melanoma
|
42 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Mycosis Fungoides
|
8 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Nevus
|
43 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Papillary thyroid carcinoma
|
204 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Peripheral T-Cell Lymphoma
|
10 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Sarcoma
|
42 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Sebaceous adenoma
|
6 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Sezary Syndrome
|
7 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
|
1 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Stage IV Skin Melanoma
|
29 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |