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 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.080 | 1.000 | 8 | 2005 | 2017 | ||||||
Complete Trisomy 21 Syndrome
|
77 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.070 | 1.000 | 7 | 2007 | 2017 | ||||||
Acute lymphocytic leukemia
|
222 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||||
Adult Acute Lymphocytic Leukemia
|
154 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||||
Childhood Acute Lymphoblastic Leukemia
|
261 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||||
Coronary heart disease
|
1178 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||
Breast Carcinoma
|
2793 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Central neuroblastoma
|
231 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Childhood Neuroblastoma
|
231 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Colon Carcinoma
|
275 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
Congenital Abnormality
|
73 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Conotruncal defect
|
45 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Deformity
|
26 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Lymphoma, Non-Hodgkin
|
197 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
Malignant neoplasm of breast
|
3417 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Malignant neoplasm of liver
|
88 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Malignant tumor of colon
|
688 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
Neural Tube Defects
|
122 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Neuroblastoma
|
386 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Retinoblastoma
|
193 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Turner Syndrome
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1 | 2015 | 2015 |