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 | 11 | 2171856 | 5 prime UTR variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||||
|
3 | 1.000 | 19 | 35720980 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 19 | 35721775 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 9 | 2641436 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 129818877 | missense variant | G/A;C | snv | 3.0E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 8 | 42843038 | synonymous variant | G/A | snv | 7.6E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 9 | 129814009 | missense variant | G/A | snv | 8.0E-06; 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 129813558 | 3 prime UTR variant | C/- | del | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 32888928 | synonymous variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 18 | 11689847 | missense variant | T/C | snv | 2.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 19 | 53109614 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 18 | 23534477 | missense variant | G/A;C | snv | 1.2E-04 | 0.700 | 0 | |||||||||
|
3 | 1.000 | 8 | 23007711 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 14 | 54902537 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 8 | 1991 | 2014 | |||
|
3 | 1.000 | 0.040 | 11 | 2167905 | missense variant | C/T | snv | 1.1E-04 | 1.4E-04 | 0.700 | 1.000 | 7 | 1998 | 2015 | |||
|
3 | 0.925 | 0.040 | 11 | 2168614 | stop gained | G/A | snv | 6.2E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2010 | 2017 | |||
|
7 | 0.827 | 0.040 | 9 | 129818622 | missense variant | C/G;T | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2017 | ||||
|
3 | 1.000 | 0.040 | 14 | 54844023 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.925 | 0.040 | 19 | 29702747 | missense variant | T/C | snv | 2.3E-03 | 1.1E-03 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 1.000 | 0.040 | 21 | 25975997 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |