Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||||
|
10 | 74031881 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 74114657 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 74114657 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 74114657 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 74114657 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 74114657 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 74114657 | intron variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 74072792 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
10 | 74097222 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
10 | 74095825 | frameshift variant | A/- | del | 4.0E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
10 | 74083453 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
10 | 74074773 | frameshift variant | -/A | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 10 | 74082499 | missense variant | C/A;T | snv | 1.1E-04; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
10 | 74095654 | splice acceptor variant | A/G | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 10 | 74114349 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 10 | 74114349 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
10 | 74111991 | frameshift variant | CT/- | del | 1.3E-04 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 10 | 74094449 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
10 | 74074789 | frameshift variant | -/G | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.030 | 1.000 | 3 | 2006 | 2013 | ||||||
|
0.925 | 0.160 | 10 | 74070712 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2017 | 2017 | ||||||
|
0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |