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 endocrine neoplasia Type 2
|
38 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 49 | 1993 | 2016 | |||||
Multiple Endocrine Neoplasia Type 2a
|
44 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.890 | 1.000 | 19 | 1994 | 2017 | |||||
Medullary carcinoma of thyroid
|
71 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 1995 | 2018 | |||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.700 | 1.000 | 11 | 1994 | 2017 | |||||
Hyperparathyroidism
|
14 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.060 | 1.000 | 6 | 1998 | 2015 | |||||
Pheochromocytoma
|
186 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.820 | 1.000 | 5 | 2005 | 2014 | |||||
Familial medullary thyroid carcinoma
|
45 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.740 | 1.000 | 4 | 1994 | 2018 | |||||
Parathyroid Diseases
|
4 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 1994 | 1998 | |||||
Thyroid carcinoma
|
145 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 4 | 2001 | 2018 | |||||
Adrenal Gland Pheochromocytoma
|
50 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2005 | 2008 | |||||
Amyloidosis, Primary Cutaneous
|
10 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 1997 | 2002 | |||||
Multiple Endocrine Neoplasia Type 2b
|
21 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 2 | 1995 | 2017 | |||||
Neoplasm Metastasis
|
327 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
Papillary thyroid carcinoma
|
204 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||||
Secondary Neoplasm
|
85 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
C-cell hyperplasia of thyroid
|
16 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Malignant neoplasm of thyroid
|
103 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Multiple Endocrine Neoplasia
|
11 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
Multiple Endocrine Neoplasia Type 1
|
156 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
Multiple Endocrine Neoplasia, Type IV
|
23 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
Neoplasms
|
1644 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
THYROID CARCINOMA, SPORADIC MEDULLARY
|
11 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Thyroid Neoplasm
|
135 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Tumor Cell Invasion
|
169 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |