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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 19 | 51991525 | 3 prime UTR variant | T/C | snv | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 7 | 81207393 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.851 | 0.040 | 7 | 111871082 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.040 | 5 | 95647825 | 5 prime UTR variant | C/T | snv | 4.9E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 7 | 100701361 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.040 | 1 | 8362616 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 2 | 241081801 | splice region variant | G/A | snv | 7.6E-02 | 1.0E-01 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.040 | 7 | 24652933 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 10 | 18312999 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 6 | 30945681 | intron variant | G/A | snv | 9.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 1 | 234897489 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.200 | 6 | 31758911 | intron variant | C/A | snv | 0.34 | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.200 | 12 | 56055651 | regulatory region variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 |
|
0.860 | 0.857 | 1 | 2008 | 2019 | ||||||||
|
0.851 | 0.320 | 6 | 32815309 | synonymous variant | A/G | snv | 0.18 | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.040 | 8 | 105130105 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 3 | 30453840 | regulatory region variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 |
|
0.710 | 1.000 | 6 | 2014 | 2019 | ||||||||
|
0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv |
|
0.800 | 1.000 | 3 | 2009 | 2014 | |||||||||
|
0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.882 | 0.040 | 1 | 243445665 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
0.882 | 0.160 | 7 | 1881190 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |