| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.658 | 0.440 | 17 | 7673776 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 |
|
0.100 | 0.909 | 11 | 2008 | 2019 | ||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 |
|
0.070 | 1.000 | 7 | 2007 | 2019 | |||||||
|
0.742 | 0.320 | 15 | 74755085 | synonymous variant | T/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 14 | 64227153 | 3 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.160 | 15 | 74727108 | upstream gene variant | C/T | snv | 0.20 |
|
0.030 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 |
|
0.030 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.851 | 0.160 | 19 | 38496283 | missense variant | C/G;T | snv | 2.0E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.807 | 0.160 | 15 | 74745879 | upstream gene variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 19 | 38500898 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.882 | 0.120 | 19 | 38444211 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.851 | 0.120 | 19 | 38455359 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.120 | 19 | 38584989 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.120 | 19 | 38457545 | missense variant | C/G;T | snv | 8.7E-05 | 1.1E-04 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.882 | 0.120 | 19 | 38494579 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.120 | 19 | 38499997 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 |