| 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 | 0.040 | 6 | 139547773 | intron variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 169793666 | missense variant | T/A;G | snv | 4.1E-06; 0.19 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 44145167 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.200 | 1 | 162115895 | intron variant | G/T | snv | 0.54 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 192049636 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.280 | 10 | 67875446 | downstream gene variant | T/A | snv | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 4 | 26083889 | intron variant | G/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 15 | 89665079 | 3 prime UTR variant | A/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 17 | 82750725 | synonymous variant | C/A;G;T | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 6 | 134172259 | synonymous variant | G/A | snv | 0.12 | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 12 | 120989017 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 120994238 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 1 | 116384040 | synonymous variant | A/G | snv | 1.3E-03 | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.020 | 0.500 | 2 | 2007 | 2012 | |||||||
|
0.851 | 0.160 | 16 | 56609431 | 3 prime UTR variant | G/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |