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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 9 | 92047261 | missense variant | G/A;T | snv | 0.810 | 1.000 | 9 | 2001 | 2018 | |||||
|
1 | 1.000 | 0.080 | 9 | 92047198 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 2001 | 2018 | ||||
|
2 | 0.925 | 0.080 | 9 | 92080044 | missense variant | A/C | snv | 0.730 | 1.000 | 10 | 2001 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 92068095 | missense variant | A/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2001 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 92080045 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2002 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 92047181 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 14 | 77576869 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 9 | 92038342 | missense variant | C/G;T | snv | 4.3E-04; 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 11 | 63719416 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 38300312 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 38296103 | missense variant | G/C | snv | 2.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 14 | 77518097 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 0.080 | 11 | 63646550 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 63719854 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |