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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv | 0.730 | 1.000 | 3 | 1990 | 2008 | |||||
|
1 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 0.720 | 1.000 | 2 | 2000 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 31229157 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 2003 | 2018 | |||||
|
1 | 0.925 | 0.120 | 17 | 31336750 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.120 | 17 | 31181757 | synonymous variant | G/A;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 17 | 31258502 | missense variant | G/A;C;T | snv | 0.810 | 1.000 | 1 | 1990 | 2018 | |||||
|
5 | 0.851 | 0.240 | 17 | 31352411 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1995 | 2016 | ||||
|
2 | 0.827 | 0.280 | 17 | 31327839 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2000 | 2014 | |||||
|
4 | 0.882 | 0.120 | 17 | 31327718 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2003 | 2015 | |||||
|
5 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 1994 | 2014 | |||||
|
2 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 1997 | 2015 | |||||
|
1 | 0.882 | 0.200 | 17 | 31261733 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.710 | 1.000 | 1 | 1997 | 2019 | |||
|
3 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 17 | 31200538 | synonymous variant | T/C | snv | 8.4E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 |