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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cardiomyopathies
|
294 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.700 | 0 | ||||||||
Dystransthyretinemic Euthyroidal Hyperthyroxinemia
|
4 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.700 | 0 | ||||||||
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 | |||||
Polyneuropathy
|
32 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.968 | 31 | 1984 | 2019 | |||||
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 | |||||
Amyloidosis
|
93 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.100 | 0.980 | 49 | 1986 | 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 | |||||
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 | |||||
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 | |||||
Gastrointestinal dysfunction
|
6 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
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 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 | |||||
Mixed sensory-motor polyneuropathy
|
8 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 0.500 | 2 | 2001 | 2006 | |||||
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 | |||||
nervous system disorder
|
39 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Peripheral Nervous System Diseases
|
69 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Peripheral Neuropathy
|
81 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Renal Insufficiency
|
42 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
Kidney Failure
|
36 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Secondary glaucoma
|
2 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
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 | |||||
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 | |||||
Primary Systemic Amyloidosis
|
10 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
Spinocerebellar Ataxia Type 1
|
4 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 |