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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
Amyloidosis
|
93 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.980 | 49 | 1986 | 2019 | |||||
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 | |||||
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 | |||||
Polyneuropathy
|
32 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.968 | 31 | 1984 | 2019 | |||||
Senile cardiac amyloidosis
|
19 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 16 | 1999 | 2019 | |||||
Neuropathy
|
110 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 12 | 2008 | 2020 | |||||
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 | |||||
Familial (FPAH)
|
276 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 1.000 | 10 | 1985 | 2018 | |||||
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 | |||||
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 | |||||
Anemia
|
94 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2007 | 2010 | |||||
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 | |||||
Familial Amyloid Neuropathy, Portuguese Type
|
2 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2000 | 2007 | |||||
Neurodegenerative Disorders
|
85 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2006 | 2016 | |||||
Sessile Serrated Adenoma/Polyp
|
6 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.030 | 1.000 | 3 | 2006 | 2012 | |||||
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 | |||||
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 | |||||
Dysautonomia
|
18 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
Glaucoma
|
198 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||||
Huntington Disease
|
115 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||||
Hypertrophic Cardiomyopathy
|
635 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2005 | 2015 | |||||
Liver carcinoma
|
942 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
Liver neoplasms
|
7 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
Machado-Joseph Disease
|
12 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2006 | 2017 |