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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 19 | 10310616 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2014 | 2018 | |||||||
|
9 | 0.851 | 0.200 | 4 | 185145020 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.710 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 19 | 10315996 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2014 | 2018 | |||||||
|
1 | MT | 5631 | non coding transcript exon variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | MT | 5610 | non coding transcript exon variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | MT | 4409 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | MT | 5591 | non coding transcript exon variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | MT | 12320 | non coding transcript exon variant | A/G | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | MT | 5521 | non coding transcript exon variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 19 | 19110790 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 22 | 23766251 | missense variant | G/T | snv | 1.3E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
58 | 0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 16 | 66531432 | missense variant | G/A | snv | 4.4E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 1.000 | 0.040 | 14 | 36684834 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.280 | 12 | 113399616 | missense variant | C/T | snv | 8.6E-06 | 7.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 1.000 | 0.120 | 12 | 108564313 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.040 | 22 | 23767459 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.280 | 2 | 97646179 | missense variant | G/A;T | snv | 6.7E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 22 | 28742247 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |