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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Down Syndrome
|
80 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.050 | 0.800 | 5 | 2005 | 2013 | ||||||
Neural Tube Defects
|
122 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.050 | 0.800 | 5 | 2003 | 2013 | ||||||
Complete Trisomy 21 Syndrome
|
77 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.040 | 0.750 | 4 | 2006 | 2013 | ||||||
Breast Carcinoma
|
2793 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2007 | 2010 | ||||||
Central neuroblastoma
|
231 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||
Childhood Neuroblastoma
|
231 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||
Lymphoma, Non-Hodgkin
|
197 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2007 | ||||||
Malignant neoplasm of breast
|
3417 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2007 | 2010 | ||||||
Neuroblastoma
|
386 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||
Parkinson Disease
|
990 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||||
Acute lymphocytic leukemia
|
222 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Adult Lymphoblastic Lymphoma
|
4 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Childhood Lymphoblastic Lymphoma
|
4 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Childhood Osteosarcoma
|
151 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Congenital Abnormality
|
73 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Congenital omphalocele
|
13 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
Conotruncal defect
|
45 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Coronary Artery Disease
|
1577 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Deformity
|
26 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Hyperhomocysteinemia
|
45 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Hypertensive disease
|
1085 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Malaria
|
148 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Nephroblastoma
|
125 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Osteosarcoma
|
178 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
Osteosarcoma of bone
|
151 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |