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 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.860 | 1.000 | 44 | 1986 | 2019 | ||||
Senile cardiac amyloidosis
|
19 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.100 | 1.000 | 14 | 1997 | 2019 | ||||
Amyloidosis
|
93 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.100 | 1.000 | 12 | 2001 | 2019 | ||||
Cardiomyopathies
|
294 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.780 | 1.000 | 8 | 2001 | 2019 | ||||
Congestive heart failure
|
165 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.070 | 0.857 | 7 | 2010 | 2019 | ||||
Heart failure
|
201 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.060 | 0.833 | 6 | 2012 | 2019 | ||||
Transthyretin cardiac amyloidosis
|
2 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.040 | 1.000 | 4 | 2012 | 2017 | ||||
Arteriosclerosis
|
267 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
Heart Diseases
|
45 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
Hereditary cardiac amyloidosis
|
1 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
Peripheral Nervous System Diseases
|
69 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
Peripheral Neuropathy
|
81 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
Carpal Tunnel Syndrome
|
46 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
Atherosclerosis
|
281 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Congenital Heart Defects
|
58 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Danish type familial amyloid cardiomyopathy
|
2 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
Familial (FPAH)
|
276 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
Hypertensive disease
|
1085 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
Inclusion Body Myopathy, Sporadic
|
5 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
Inclusion Body Myositis (disorder)
|
1 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
Left Ventricular Hypertrophy
|
67 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
Monoclonal Gammopathy of Undetermined Significance
|
20 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
Mononeuropathies
|
2 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Neurologic Symptoms
|
30 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
Numbness
|
2 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 |