| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 8 | 42339015 | missense variant | T/C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 143813896 | missense variant | T/C;G | snv | 6.1E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 3 | 9756791 | missense variant | G/A;T | snv | 3.9E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 8 | 1979843 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 17 | 7674965 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 3 | 196071416 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 9 | 21968766 | missense variant | T/C | snv | 7.4E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 3 | 9756770 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 21209124 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 176681548 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 5 | 177503768 | 3 prime UTR variant | C/T | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 110621303 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 14 | 95132574 | missense variant | T/C | snv | 1.6E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.200 | 17 | 43092379 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.160 | 17 | 7670711 | missense variant | C/T | snv | 4.4E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 2 | 219058688 | non coding transcript exon variant | -/AAG | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 1 | 113114471 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 16 | 68828263 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 5 | 35072610 | missense variant | T/G | snv | 1.9E-02 | 1.9E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 14 | 75280958 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |