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 | 5 | 14387508 | missense variant | C/T | snv | 8.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 19 | 13235262 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 11 | 66708251 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.080 | 11 | 66707731 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 1.000 | 0.040 | 7 | 76302870 | missense variant | G/A | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 9 | 132311820 | frameshift variant | CTCT/-;CT | delins | 4.0E-06; 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 6 | 146159536 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 8 | 60232322 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 1 | 226982996 | stop gained | C/T | snv | 4.5E-05 | 5.6E-05 | 0.020 | 0.500 | 2 | 2010 | 2012 | |||
|
3 | 1.000 | 0.160 | 11 | 119091414 | missense variant | G/A;T | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.160 | 11 | 119091432 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 5 | 139050960 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 12 | 6936663 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 1.000 | 0.080 | 19 | 53889655 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.120 | 2 | 44301057 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.120 | 2 | 44280805 | missense variant | A/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 4 | 83264287 | missense variant | A/G | snv | 4.2E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.120 | 2 | 44299998 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.080 | 9 | 132327718 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 1.000 | 0.080 | 1 | 244842055 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 9 | 132288268 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.120 | X | 75070499 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 1.000 | 0.080 | 16 | 89524099 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.120 | 19 | 7541025 | missense variant | C/G | snv | 0.700 | 0 |