| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 12 | 99694540 | intron variant | T/C | snv | 5.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 11 | 98834502 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 9581767 | downstream gene variant | C/A | snv | 0.60 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 8 | 95439600 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 1.000 | 0.040 | 8 | 95439207 | intron variant | C/A | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 93920284 | upstream gene variant | T/A | snv | 0.61 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 16 | 87925065 | intron variant | C/T | snv | 5.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 8543925 | intron variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 14 | 85343567 | intergenic variant | T/C | snv | 0.23 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 7 | 82153198 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 76083176 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.040 | 12 | 75962050 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 15 | 73373165 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 14 | 72418763 | intron variant | G/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 6846127 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
12 | 0.851 | 0.240 | 11 | 61803910 | 5 prime UTR variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.040 | 7 | 6163445 | 3 prime UTR variant | C/A | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 10 | 59510886 | intergenic variant | T/C | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 12 | 55629199 | intergenic variant | T/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 54292131 | intron variant | T/C | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 18 | 54268905 | non coding transcript exon variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 53409327 | intron variant | T/A;C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 18 | 48509413 | intergenic variant | A/C | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 22 | 46429532 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 22 | 46423108 | intron variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 |