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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 4 | 1993 | 2018 | |||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.710 | 1.000 | 7 | 2000 | 2019 | |||||
|
4 | 1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||
|
3 | 1.000 | 0.040 | X | 120557964 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.160 | X | 154399844 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | X | 153693586 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 1.000 | 0.200 | X | 134393556 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.882 | 0.080 | X | 155280059 | missense variant | G/C | snv | 4.4E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | X | 154030639 | stop gained | C/A;T | snv | 5.8E-06; 5.8E-06; 2.2E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.080 | X | 154031430 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | X | 154031145 | missense variant | G/C | snv | 7.4E-04 | 2.9E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | X | 154030753 | missense variant | A/G | snv | 8.3E-05 | 4.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.851 | 0.240 | X | 18575383 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.160 | X | 78012885 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | X | 18588118 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.280 | X | 49076469 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | X | 153688666 | missense variant | C/A;G;T | snv | 1.6E-05; 3.3E-05 | 3.9E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 1.000 | X | 71132465 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
6 | 0.851 | 0.200 | X | 68210239 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | X | 51744647 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.080 | X | 120544179 | stop gained | G/A | snv | 0.700 | 0 |