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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.810 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2018 | |||||||||
|
1.000 | 0.040 | 12 | 27269953 | intron variant | C/T | snv | 7.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 66452557 | intron variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2017 | 2018 | |||||||||
|
0.827 | 0.080 | 11 | 118657714 | 3 prime UTR variant | C/T | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
0.882 | 0.040 | 15 | 76286421 | missense variant | G/A | snv | 7.4E-02 | 6.4E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2017 | |||||||
|
0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.710 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 15 | 55254859 | intron variant | A/C | snv | 0.66 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 118650844 | non coding transcript exon variant | A/G | snv | 0.57 |
|
0.710 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 |
|
0.710 | 1.000 | 1 | 2017 | 2019 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 21 | 33027257 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | 1 | 46278228 | synonymous variant | C/A;T | snv | 4.0E-06; 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 19 | 45352266 | synonymous variant | G/A | snv | 0.28 | 0.26 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 14 | 45073835 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |