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 2a
|
44 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.900 | 0.974 | 39 | 1993 | 2018 | |||||
Multiple endocrine neoplasia Type 2
|
38 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.730 | 0.971 | 35 | 1991 | 2017 | |||||
Familial medullary thyroid carcinoma
|
45 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.820 | 1.000 | 30 | 1993 | 2018 | |||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 1994 | 2017 | |||||
Medullary carcinoma of thyroid
|
71 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.770 | 1.000 | 8 | 1995 | 2015 | |||||
Pheochromocytoma
|
186 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.850 | 1.000 | 8 | 2002 | 2014 | |||||
Adrenal Gland Pheochromocytoma
|
50 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.060 | 1.000 | 6 | 2002 | 2013 | |||||
Hyperparathyroidism
|
14 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 1.000 | 5 | 1998 | 2015 | |||||
Amyloidosis, Primary Cutaneous
|
10 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 1994 | 1998 | |||||
C-cell hyperplasia of thyroid
|
16 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Goiter
|
19 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
metastatic parathyroid cancer
|
1 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
Multiple Endocrine Neoplasia Type 1
|
156 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
Multiple Endocrine Neoplasia Type 2b
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
Multiple Endocrine Neoplasia, Type IV
|
23 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | |||||
Neoplasm Metastasis
|
327 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Neoplasms
|
1644 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
Papillary thyroid carcinoma
|
204 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
Parathyroid Diseases
|
4 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
Secondary Neoplasm
|
85 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Tumor Cell Invasion
|
169 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |