| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.160 | 2 | 99439044 | missense variant | A/G | snv | 0.58 | 0.61 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 2 | 99438696 | missense variant | T/C | snv | 0.13 | 0.17 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.080 | 15 | 75355623 | 3 prime UTR variant | G/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 15 | 75351418 | intron variant | G/T | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.040 | 12 | 95980836 | missense variant | C/T | snv | 0.85 | 0.86 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 8 | 11770112 | 5 prime UTR variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.925 | 0.080 | 11 | 89178528 | missense variant | C/A | snv | 0.25 | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 1 | 153561551 | missense variant | C/T | snv | 7.1E-02 | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.807 | 0.080 | 19 | 1223124 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 |
|
0.710 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.807 | 0.200 | 15 | 27985172 | missense variant | C/T | snv | 4.7E-02 | 4.9E-02 |
|
0.710 | 1.000 | 1 | 2009 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 153563811 | stop gained | G/A | snv | 2.2E-04 | 3.4E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.120 | 19 | 1223126 | missense variant | C/G;T | snv | 5.2E-03; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.020 | 1.000 | 2 | 2010 | 2017 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.120 | 17 | 7669626 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |