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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adrenocortical Carcinoma, Pediatric
|
2 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
ovarian neoplasm
|
757 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
Squamous cell carcinoma of the head and neck
|
348 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
Secondary Neoplasm
|
85 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Breast adenocarcinoma
|
7 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Familial (FPAH)
|
276 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Hereditary Malignant Neoplasm
|
18 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Bone Sarcoma
|
4 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
Neoplasm Metastasis
|
327 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2001 | 2011 | |||||
Osteosarcoma
|
178 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2009 | 2011 | |||||
Childhood Osteosarcoma
|
151 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Intestinal metaplasia
|
24 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Osteosarcoma of bone
|
151 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Trichohepatoenteric Syndrome
|
28 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
Carcinoma
|
103 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
Mammary Neoplasms
|
385 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
Choroid Plexus Carcinoma
|
11 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.040 | 1.000 | 4 | 2011 | 2015 | |||||
Central neuroblastoma
|
231 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Childhood Neuroblastoma
|
231 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Neuroblastoma
|
386 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
LI-FRAUMENI SYNDROME 1
|
39 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 2000 | 2016 | |||||
Malignant neoplasm of breast
|
3417 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.080 | 1.000 | 8 | 2007 | 2016 | |||||
Adrenocortical carcinoma
|
46 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2003 | 2016 | |||||
Agenesis of corpus callosum
|
45 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2001 | 2016 | |||||
Aplasia Cutis Congenita
|
14 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.070 | 1.000 | 7 | 2001 | 2016 |