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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Adenomatous Polyposis Coli
|
237 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.972 | 36 | 1992 | 2019 | |||||
Alzheimer's Disease
|
1843 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
Amyloid Neuropathies
|
3 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2004 | 2018 | |||||
Amyloid Neuropathies, Familial
|
16 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 43 | 1998 | 2019 | |||||
Amyloid of vitreous
|
1 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Amyloidosis
|
93 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.980 | 49 | 1986 | 2019 | |||||
Amyloidosis, Familial
|
12 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 11 | 2000 | 2018 | |||||
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
68 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.900 | 0.989 | 88 | 1984 | 2019 | |||||
Anemia
|
94 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2007 | 2010 | |||||
Autonomic nervous system disorders
|
7 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
Autonomic neuropathy
|
7 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.060 | 1.000 | 6 | 2004 | 2018 | |||||
Axonal sensorimotor neuropathy
|
2 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Bilateral carpal tunnel syndrome
|
2 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Breathing abnormally deep
|
1 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Cardiac Arrhythmia
|
111 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2004 | 2011 | |||||
Cardiomyopathies
|
294 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.700 | 0 | ||||||||
Carpal Tunnel Syndrome
|
46 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.730 | 0.667 | 3 | 2009 | 2017 | |||||
Central neuroblastoma
|
231 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
Cerebral Amyloid Angiopathy
|
22 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Childhood Neuroblastoma
|
231 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
CNS metastases
|
14 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Diabetes Mellitus, Non-Insulin-Dependent
|
2672 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
Diabetic Neuropathies
|
12 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
Disorder of eye
|
14 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
Dysautonomia
|
18 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2008 | 2014 |