| 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 | 14 | 75047123 | missense variant | T/C | snv | 1.1E-02 | 1.5E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 4 | 15968315 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 12 | 57768115 | intron variant | G/A;C | snv | 0.27 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 988812 | missense variant | C/T | snv | 0.21 | 0.17 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.160 | 19 | 50406456 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.200 | 12 | 111791045 | intron variant | T/C | snv | 0.18 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 8695601 | intergenic variant | G/C | snv | 0.42 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 11 | 13492506 | stop gained | G/A;T | snv | 4.0E-06; 0.16 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 2 | 11320199 | intron variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 15 | 67542218 | non coding transcript exon variant | T/C | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | |||||||||
|
0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.120 | 8 | 64580966 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.200 | 2 | 38074936 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2012 | 2012 |