| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 207851475 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 2 | 231406573 | regulatory region variant | A/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 3 | 53409327 | intron variant | T/A;C | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 100899511 | upstream gene variant | A/G | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 177815704 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 164169729 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 76083176 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.040 | 6 | 14411553 | intergenic variant | A/G | snv | 4.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 6 | 14420151 | intergenic variant | G/C | snv | 4.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 164164966 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164164750 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164164637 | intron variant | A/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
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 | 16 | 24584678 | intergenic variant | T/C | snv | 2.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | 6 | 14453908 | intron variant | C/G | snv | 4.4E-03 | 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 | ||||
|
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 | 5 | 8543925 | intron variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 164148585 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164157441 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 164172004 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 121409576 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 55629199 | intergenic variant | T/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |