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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 7 | 117536576 | missense variant | A/G | snv | 1.8E-04 | 1.1E-04 |
|
0.700 | 1.000 | 17 | 1995 | 2017 | |||||||
|
1.000 | 0.120 | 7 | 117606701 | missense variant | A/C;G;T | snv | 3.6E-05; 4.0E-06 |
|
0.700 | 1.000 | 14 | 1997 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 117603687 | missense variant | T/G | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 10 | 1997 | 2017 | |||||||
|
7 | 117314731 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
0.882 | 0.160 | 7 | 117610521 | missense variant | G/C | snv | 2.3E-03 | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.851 | 0.160 | 7 | 117540243 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
7 | 117401015 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 7 | 117667029 | stop gained | C/A;G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 7 | 117610521 | missense variant | G/C | snv | 2.3E-03 | 2.1E-03 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 7 | 117610521 | missense variant | G/C | snv | 2.3E-03 | 2.1E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117548629 | splice acceptor variant | TTTTTT/-;TTTT;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT | delins |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 |
|
0.700 | 0 | |||||||||||
|
7 | 117299233 | intron variant | C/T | snv | 3.0E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
7 | 117299233 | intron variant | C/T | snv | 3.0E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 7 | 117424571 | intron variant | T/C | snv | 0.40 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 117427768 | intron variant | T/G | snv | 0.11 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 7 | 117692860 | intron variant | A/G | snv | 0.53 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 |