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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Costello syndrome (disorder)
|
16 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.830 | 1.000 | 7 | 2005 | 2017 | ||||||
Nevus Sebaceus of Jadassohn
|
7 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 0 | 2012 | 2012 | ||||||
Thyroid Neoplasm
|
25 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 5 | 2007 | 2015 | ||||||
Neoplasms
|
98 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||||
Organoid Nevus Phakomatosis
|
7 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 0 | 2012 | 2012 | ||||||
Noonan Syndrome
|
153 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2006 | 2018 | ||||||
Adenocarcinoma of lung (disorder)
|
211 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Adenocarcinoma of pancreas
|
114 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Chronic Lymphocytic Leukemia
|
51 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Colorectal Neoplasms
|
216 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Cutaneous Melanoma
|
153 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Gastric Adenocarcinoma
|
188 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Leukemia, Myelocytic, Acute
|
141 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Liver carcinoma
|
142 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant Uterine Corpus Neoplasm
|
152 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Mammary Neoplasms
|
314 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Multiple Myeloma
|
76 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Nevus sebaceous
|
4 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
Squamous cell carcinoma of lung
|
135 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of skin
|
54 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Squamous cell carcinoma of the head and neck
|
179 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Transitional cell carcinoma of bladder
|
141 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Uterine Cervical Neoplasm
|
69 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
GIANT PIGMENTED HAIRY NEVUS
|
5 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Malignant neoplasm of urinary bladder
|
17 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 |