| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 10122697 | synonymous variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
2 | 201190589 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 49902723 | missense variant | A/G | snv | 8.8E-05 | 5.6E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
7 | 55173087 | missense variant | G/A | snv | 2.1E-04 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
9 | 117712651 | missense variant | A/G | snv | 6.5E-04 | 4.3E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
3 | 189527804 | intergenic variant | A/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 156842109 | missense variant | T/C;G | snv | 8.8E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 51296650 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
3 | 189638432 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
17 | 39724864 | missense variant | C/T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||||
|
5 | 151029787 | downstream gene variant | T/C | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 14141866 | downstream gene variant | T/C | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
21 | 10567746 | missense variant | G/A;C | snv | 2.4E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 30121948 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
10 | 32017334 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 41721077 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
15 | 98956205 | intron variant | T/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
5 | 112819077 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
6 | 14138061 | downstream gene variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 6 | 151944344 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 8776852 | missense variant | C/A;T | snv | 2.0E-05 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |