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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
McCune-Albright Syndrome
|
10 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.850 | 1.000 | 11 | 1991 | 2018 | ||||||
Fibrous Dysplasia
|
5 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.050 | 1.000 | 5 | 2012 | 2014 | ||||||
Neoplasms
|
1644 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.730 | 0.800 | 5 | 2010 | 2014 | ||||||
Acth-Independent Macronodular Adrenal Hyperplasia
|
8 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2003 | 2003 | ||||||
Adenocarcinoma of lung (disorder)
|
563 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adenocarcinoma of pancreas
|
138 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adrenocortical carcinoma
|
46 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Anaplasia
|
7 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
80 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Carcinogenesis
|
355 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Colon Carcinoma
|
275 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Colorectal Neoplasms
|
609 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Cryptogenic sexual precocity
|
2 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Cutaneous Melanoma
|
248 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Gastric Adenocarcinoma
|
235 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Intraductal papillary mucinous neoplasm
|
2 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Liver carcinoma
|
942 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant neoplasm of soft tissue
|
32 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Malignant tumor of colon
|
688 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Mammary Neoplasms
|
385 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Pancreatic Intraductal Papillary Mucinous Neoplasm
|
8 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Polyostotic fibrous dysplasia
|
2 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Precocious Puberty
|
20 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Sarcoma
|
42 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Squamous cell carcinoma of the head and neck
|
348 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |