| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | 13 | 91354516 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.160 | X | 8533018 | missense variant | T/C | snv | 1.9E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.160 | 13 | 108204435 | downstream gene variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.160 | 7 | 108670542 | intergenic variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 6 | 31139481 | intron variant | T/C | snv | 0.72 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.851 | 0.280 | 1 | 155309691 | non coding transcript exon variant | T/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.280 | 8 | 127180736 | intron variant | A/G | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.160 | 5 | 95917404 | intron variant | C/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 10 | 99790008 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.240 | 16 | 87855597 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.160 | 17 | 16945825 | intron variant | A/G | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
1.000 | 0.160 | 13 | 91349218 | non coding transcript exon variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.160 | 1 | 202791530 | intron variant | T/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
0.807 | 0.240 | 3 | 41200847 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |