| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.720 | 1.000 | 2 | 2015 | 2019 | |||||||||
|
0.807 | 0.160 | 5 | 159400761 | intron variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.925 | 0.160 | 16 | 50711057 | missense variant | C/G;T | snv | 4.8E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 194360431 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 6 | 32658490 | upstream gene variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 31408140 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 6 | 30490287 | missense variant | G/A;T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 31880663 | non coding transcript exon variant | A/G;T | snv | 8.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 21 | 39093140 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 5 | 159405269 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 5 | 159409099 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 3 | 159992214 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 31762974 | 3 prime UTR variant | G/A | snv | 6.5E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31312441 | intron variant | T/C | snv | 9.6E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 162479619 | intergenic variant | G/A | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31121931 | intron variant | A/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 31621958 | intron variant | C/T | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 6 | 31402590 | non coding transcript exon variant | G/A | snv | 5.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 31386461 | upstream gene variant | C/T | snv | 5.9E-02 |
|
0.720 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 255562 | regulatory region variant | C/T | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 29097215 | upstream gene variant | C/A;T | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 6 | 32815628 | intron variant | C/T | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 31360768 | upstream gene variant | A/T | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |