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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of the tongue
|
2 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Colorectal Carcinoma
|
1962 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Congenital pectus excavatum
|
36 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Impaired cognition
|
348 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Neck webbing
|
19 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
ovarian neoplasm
|
757 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Pancytopenia
|
15 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Short stature
|
292 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Nasopharyngeal carcinoma
|
320 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1 | 2015 | 2015 | ||||||
Malignant Neoplasms
|
1641 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2007 | 2019 | |||||
Primary malignant neoplasm
|
1374 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2007 | 2019 | |||||
Neoplasms
|
1644 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.760 | 0.857 | 7 | 1999 | 2019 | |||||
Li-Fraumeni Syndrome
|
206 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.820 | 1.000 | 34 | 1990 | 2015 | |||||
Neoplastic Syndromes, Hereditary
|
6387 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 19 | 1990 | 2017 | |||||
Leukemia, Myelocytic, Acute
|
6892 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 4 | 2010 | 2016 | |||||
LI-FRAUMENI SYNDROME 1
|
39 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1990 | 2011 | |||||
Adenocarcinoma of lung (disorder)
|
563 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2016 | 2017 | |||||
Malignant neoplasm of pancreas
|
277 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2008 | |||||
Mammary Neoplasms
|
385 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
Pancreatic carcinoma
|
322 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2008 | |||||
Small cell carcinoma of lung
|
125 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 1991 | 2016 | |||||
Adenocarcinoma of pancreas
|
138 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Adenocarcinoma of prostate
|
108 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
Anaplastic thyroid carcinoma
|
16 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
Brain Neoplasms
|
204 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 |