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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABLEPHARON-MACROSTOMIA SYNDROME
|
14 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
Acromegaly
|
25 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
Acute Chest Syndrome
|
135 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
Acute Coronary Syndrome
|
139 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
Acute myocardial infarction
|
118 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.040 | 0.750 | 4 | 2011 | 2018 | ||||
Aggressive periodontitis, generalized
|
16 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
anaphylaxis
|
4 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
Anemia, Sickle Cell
|
138 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
Angina, Unstable
|
21 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Arteriosclerosis
|
267 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 1999 | 2007 | ||||
Asthma
|
1536 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
Atherosclerosis
|
281 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 1999 | 2007 | ||||
Atherosclerotic renal artery stenosis
|
4 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Atrial Fibrillation
|
584 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
Bipolar Disorder
|
839 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
Blood Pressure
|
220 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
Brain Infarction
|
11 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
Breast Carcinoma
|
2793 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||
Carcinogenesis
|
355 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1 | 2008 | 2008 | |||||
Cardiomyopathies
|
294 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 2 | 1997 | 1999 | |||||
Cardiomyopathy, Dilated
|
509 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
Cardiomyopathy, Familial Idiopathic
|
243 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 0.500 | 2 | 1997 | 2007 | ||||
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
|
24 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
Cardiomyopathy, Hypertrophic, Familial
|
355 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1 | 1997 | 1997 | |||||
Cardiovascular Diseases
|
711 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.857 | 14 | 1998 | 2019 |