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 | 1.000 | 0.160 | 22 | 29674891 | stop gained | C/G;T | snv | 0.700 | 1.000 | 7 | 1994 | 2015 | |||||
|
1 | 1.000 | 0.160 | 22 | 29655663 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 1995 | 2016 | |||||
|
2 | 0.925 | 0.160 | 22 | 29636805 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2018 | |||||
|
1 | 1.000 | 0.160 | 22 | 29655669 | stop gained | C/T | snv | 0.700 | 1.000 | 5 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.160 | 22 | 29636758 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.160 | 22 | 29642270 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 29604041 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29655621 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 22 | 29661313 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29668405 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29671847 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29673365 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 22 | 29674882 | stop gained | G/A;T | snv | 9.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 29681443 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29636816 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 29681491 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29661327 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 22 | 29636821 | missense variant | T/C | snv | 0.810 | 1.000 | 18 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 22 | 29671905 | missense variant | T/C | snv | 0.800 | 1.000 | 17 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 22 | 29681468 | missense variant | T/C | snv | 0.800 | 1.000 | 17 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 22 | 29681477 | missense variant | A/C | snv | 0.800 | 1.000 | 17 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.160 | 22 | 29671881 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 1.000 | 14 | 1993 | 2010 | |||
|
1 | 1.000 | 0.160 | 22 | 29678299 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 22 | 29673383 | missense variant | A/G | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 22 | 29671949 | splice donor variant | G/A | snv | 0.700 | 1.000 | 3 | 1996 | 2007 |