| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 11 | 47154454 | non coding transcript exon variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 65619907 | synonymous variant | T/A;G | snv | 0.45; 4.1E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 143596704 | 5 prime UTR variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 53335237 | TF binding site variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 218674648 | TF binding site variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 65060236 | upstream gene variant | T/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 65726789 | upstream gene variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 202320478 | downstream gene variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 |