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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
|
31 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.700 | 0 | |||||||
Complete Trisomy 21 Syndrome
|
77 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Congenital heart disease
|
80 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
Congenital thyroid hypoplasia
|
5 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
CONOTRUNCAL HEART MALFORMATIONS (disorder)
|
22 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.700 | 0 | |||||||
Coronary heart disease
|
1178 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
Down Syndrome
|
80 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
Heart Septal Defects
|
12 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
HYPOPLASTIC LEFT HEART SYNDROME 2
|
11 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.800 | 0 | |||||||
Hypothyroidism
|
283 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
|
3 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.800 | 0 | |||||||
Interrupted aortic arch
|
1 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.700 | 0 | |||||||
Patent ductus arteriosus
|
56 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
Patent ductus arteriosus - persisting type
|
10 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
Tetralogy of Fallot
|
83 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.810 | 1.000 | 1 | 2008 | 2008 | ||||
Thyroid Dysgenesis
|
5 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Thyroid Hypoplasia
|
6 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |