Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.120 | 12 | 114398639 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 8 | 11750166 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 8 | 11755064 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.120 | 8 | 11755189 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 8 | 11756666 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 11756716 | non coding transcript exon variant | G/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 11758294 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
4 | 121823490 | missense variant | G/A | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 |
|
0.700 | 0 | |||||||||||
|
2 | 130522115 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
2 | 130597533 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||||
|
0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 10 | 133420125 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 151007245 | missense variant | C/G | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.160 | 1 | 155904739 | missense variant | C/A;G;T | snv |
|
0.700 | 0 |