| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.160 | 19 | 10274864 | missense variant | A/G;T | snv | 4.0E-06; 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 102790143 | 3 prime UTR variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 11 | 102790228 | 3 prime UTR variant | A/G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 102795585 | synonymous variant | T/C | snv | 0.92 | 0.95 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.040 | 9 | 113221260 | 5 prime UTR variant | G/A | snv | 0.16 | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 9 | 113262744 | 3 prime UTR variant | A/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.882 | 0.080 | 8 | 11770112 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 1.000 | 3 | 2007 | 2018 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2016 | |||||||
|
1.000 | 0.040 | 19 | 11978928 | missense variant | C/G;T | snv | 4.0E-06; 1.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 1 | 1211863 | intron variant | A/C | snv | 8.1E-02 | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |