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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 10 | 119669881 | missense variant | C/T | snv | 1.4E-04 | 7.7E-05 |
|
0.800 | 1.000 | 3 | 2011 | 2011 | ||||||||
|
1.000 | 10 | 119672399 | missense variant | C/T | snv | 8.4E-05 | 4.2E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2011 | ||||||||
|
1.000 | 10 | 119676617 | frameshift variant | C/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||||||
|
10 | 119651752 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
10 | 119667372 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
10 | 119666800 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 10 | 119676899 | stop gained | A/G;T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 10 | 119672416 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 119676794 | stop gained | G/A;T | snv | 3.5E-04 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 10 | 119672353 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 10 | 119676710 | frameshift variant | -/C | delins |
|
0.700 | 0 | |||||||||||||
|
10 | 119669920 | frameshift variant | -/TGTGTAC | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
10 | 119651742 | frameshift variant | C/-;CC | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 10 | 119676617 | frameshift variant | C/- | delins |
|
0.700 | 0 | |||||||||||||
|
10 | 119651774 | frameshift variant | ACCGGCTG/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
10 | 119676851 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
10 | 119672657 | splice donor variant | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 10 | 119676984 | missense variant | G/A | snv |
|
0.800 | 1.000 | 3 | 2011 | 2011 | |||||||||
|
0.925 | 0.040 | 10 | 119676939 | missense variant | T/C | snv |
|
0.800 | 1.000 | 3 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.040 | 10 | 119676984 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 10 | 119676939 | missense variant | T/C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 10 | 119672583 | stop gained | C/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 |