| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 10 | 89247603 | missense variant | T/G | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 5 | 150276863 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 89775184 | intron variant | A/G | snv | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 47354897 | 3 prime UTR variant | G/A | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 14 | 73171023 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 13 | 32326591 | synonymous variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 12 | 6535556 | intron variant | A/G;T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 15 | 51228009 | intron variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 160342475 | intron variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 11 | 9585485 | synonymous variant | A/G | snv | 0.15 | 0.15 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 11 | 63837705 | upstream gene variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 43254171 | intron variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 9 | 86085145 | intron variant | G/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 9 | 118708097 | intron variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 67521827 | intron variant | A/C | snv | 0.16 | 0.13 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 10 | 24275724 | non coding transcript exon variant | C/A;T | snv | 4.1E-06; 7.3E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 53824112 | intron variant | C/A;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 16 | 53825000 | intron variant | C/T | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 18 | 45922762 | intron variant | T/C | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 6132805 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |