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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Carcinoma of bladder
|
309 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
COSTELLO SYNDROME, SEVERE
|
1 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
GIANT PIGMENTED HAIRY NEVUS
|
6 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Malignant neoplasm of urinary bladder
|
316 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES
|
4 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Nevus sebaceous
|
4 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Nevus Sebaceus of Jadassohn
|
7 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
THYROID CANCER, NONMEDULLARY, 2
|
13 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Colorectal Carcinoma
|
1962 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1 | 1999 | 1999 | |||||||
Cardiac Arrhythmia
|
111 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Malignant tumor of colon
|
688 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Adult Pilocytic Astrocytoma
|
10 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Childhood Pilocytic Astrocytoma
|
10 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Pilocytic Astrocytoma
|
14 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Thymic Carcinoma
|
8 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Thymoma
|
20 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Esophageal Neoplasms
|
270 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Malignant neoplasm of esophagus
|
214 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Tumor Progression
|
72 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Acute monoblastic leukemia
|
5 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Acute monocytic leukemia
|
22 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Adult Acute Monoblastic Leukemia
|
5 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Childhood Acute Monoblastic Leukemia
|
5 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Childhood Leukemia
|
140 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |