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, SEVERE
|
1 | 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 | |||||||||
Acute monoblastic leukemia
|
5 | 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 | ||||||
GIANT PIGMENTED HAIRY NEVUS
|
6 | 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 | |||||||||
Thymic Carcinoma
|
8 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Organoid Nevus Phakomatosis
|
9 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.720 | 1.000 | 2 | 2012 | 2019 | ||||||
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 | ||||||
Ductal Carcinoma
|
11 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
THYROID CANCER, NONMEDULLARY, 2
|
13 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Juberg-Marsidi syndrome
|
14 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Pilocytic Astrocytoma
|
14 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Precancerous Conditions
|
18 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Thymoma
|
20 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Seborrheic keratosis
|
21 | 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 | ||||||
Costello syndrome (disorder)
|
24 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.840 | 1.000 | 23 | 1990 | 2019 | ||||||
Papilloma
|
27 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Adenoid Cystic Carcinoma
|
30 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Papillary renal cell carcinoma, sporadic
|
30 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |