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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Actinic cheilitis
|
8 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2015 | 2015 | |||||||
Adenomatous Polyposis Coli
|
237 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2007 | 2007 | |||||||
Autoimmune Diseases
|
428 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2010 | 2010 | |||||||
Hereditary Melanoma
|
67 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2003 | 2003 | |||||||
Merkel cell carcinoma
|
10 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2006 | 2006 | |||||||
MOHR-TRANEBJAERG SYNDROME
|
19 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2014 | 2014 | |||||||
Squamous cell carcinoma of lip
|
2 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2015 | 2015 | |||||||
Tuberous Sclerosis
|
55 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1 | 2017 | 2017 | |||||||
Biliary Tract Cancer
|
11 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2004 | 2014 | ||||||
Childhood Pilomyxoid Astrocytoma
|
2 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||||
Malignant neoplasm of pancreas
|
277 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2003 | 2015 | ||||||
Neurilemmoma
|
11 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||||
Neurofibromatoses
|
16 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||||
Neurofibromatosis 1
|
827 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||||
Pilomyxoid astrocytoma
|
2 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||||
Stage III Cutaneous Melanoma AJCC v6
|
2 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||||
Desmoplastic infantile astrocytoma
|
2 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 0.667 | 3 | 2014 | 2018 | ||||||
Dysembryoplastic neuroepithelial tumor
|
2 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 0.667 | 3 | 2013 | 2016 | ||||||
Follicular Variant Thyroid Gland Papillary Carcinoma
|
13 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 0.667 | 3 | 2006 | 2018 | ||||||
Malignant Peripheral Nerve Sheath Tumor
|
19 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 0.667 | 3 | 2013 | 2014 | ||||||
Rectal Carcinoma
|
112 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 0.667 | 3 | 2015 | 2015 | ||||||
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
|
5 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 0.667 | 3 | 2018 | 2019 | ||||||
Splenic Marginal Zone B-Cell Lymphoma
|
4 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.040 | 0.750 | 4 | 2012 | 2017 | ||||||
Secondary malignant neoplasm of lymph node
|
188 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.789 | 57 | 2004 | 2019 | ||||||
Adult Pilocytic Astrocytoma
|
10 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.800 | 10 | 2011 | 2020 |