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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.040 | 1.000 | 4 | 2000 | 2012 | |||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.040 | 0.750 | 4 | 2006 | 2017 | |||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.030 | 1.000 | 3 | 2006 | 2011 | |||||||||
|
0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.807 | 0.160 | 7 | 80677034 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 12 | 1719361 | intron variant | C/T | snv | 6.8E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 12 | 1756770 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.080 | 7 | 80672184 | intron variant | G/A | snv | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 13 | 40553948 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 20 | 44351879 | non coding transcript exon variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.851 | 0.120 | 8 | 11319901 | non coding transcript exon variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 13 | 40659794 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 13 | 40565575 | intron variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 9 | 21988897 | intron variant | C/T | snv | 0.86 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.240 | X | 114584047 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |