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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEVUS SPILUS, SOMATIC
|
1 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
SPITZ NEVUS, SOMATIC
|
1 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Noonan syndrome-like disorder with loose anagen hair
|
3 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Trichoepithelioma
|
3 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Nevus sebaceous
|
4 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
GIANT PIGMENTED HAIRY NEVUS
|
6 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Nevus Sebaceus of Jadassohn
|
7 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
Organoid Nevus Phakomatosis
|
9 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||||
Eccrine porocarcinoma
|
11 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Adult Rhabdomyosarcoma
|
12 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Childhood Rhabdomyosarcoma
|
12 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
THYROID CANCER, NONMEDULLARY, 2
|
13 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
NEVUS, EPIDERMAL (disorder)
|
17 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Benign melanocytic nevus
|
20 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Rhabdomyosarcoma
|
20 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Costello syndrome (disorder)
|
24 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.830 | 1.000 | 16 | 2005 | 2017 | ||||||
Melanocytic nevus
|
33 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Nevus
|
43 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Developmental delay (disorder)
|
68 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Uterine Cervical Neoplasm
|
72 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Dwarfism
|
77 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Noonan Syndrome 1
|
83 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | |||||||||
Squamous cell carcinoma of skin
|
92 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant neoplasm of thyroid
|
103 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Cardiac Arrhythmia
|
111 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |