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 | |||||||
Costello syndrome (disorder)
|
24 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.840 | 1.000 | 23 | 1990 | 2019 | ||||||
Neoplasms
|
1644 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.100 | 1.000 | 13 | 2010 | 2019 | ||||||
Multiple congenital anomalies
|
350 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 10 | 2002 | 2017 | ||||||
Thyroid Neoplasm
|
135 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||
Carcinogenesis
|
355 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||||
Mammary Neoplasms
|
385 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 3 | 2014 | 2017 | ||||||
Brain Neoplasms
|
204 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||
Esophageal carcinoma
|
272 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | ||||||
Leukemia, Myelocytic, Acute
|
6892 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||
Malignant Neoplasms
|
1641 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||||
melanoma
|
515 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||
Organoid Nevus Phakomatosis
|
9 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.720 | 1.000 | 2 | 2012 | 2019 | ||||||
Primary malignant neoplasm
|
1374 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2006 | 2015 | ||||||
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 |