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 | 0.120 | 14 | 87993044 | missense variant | C/A;T | snv | 0.810 | 1.000 | 10 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.120 | 14 | 87941529 | missense variant | T/G | snv | 5.2E-05 | 2.8E-05 | 0.800 | 1.000 | 16 | 1995 | 2016 | |||
|
1 | 1.000 | 0.120 | 14 | 87950724 | missense variant | G/A;T | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 16 | 1988 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 87986597 | missense variant | T/C;G | snv | 2.5E-03; 4.0E-06 | 0.800 | 1.000 | 15 | 1995 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 87945637 | missense variant | G/A;T | snv | 1.0E-04 | 0.800 | 1.000 | 15 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 87945632 | missense variant | G/A | snv | 4.4E-05 | 1.4E-05 | 0.800 | 1.000 | 14 | 1995 | 2013 | |||
|
1 | 1.000 | 0.120 | 14 | 87976361 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 14 | 1995 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 87945593 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.800 | 1.000 | 12 | 1995 | 2013 | |||
|
1 | 1.000 | 0.120 | 14 | 87965586 | missense variant | G/C | snv | 0.800 | 1.000 | 11 | 1995 | 2014 | |||||
|
1 | 1.000 | 0.120 | 14 | 87945566 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 11 | 1995 | 2014 | ||||
|
1 | 1.000 | 0.120 | 14 | 87986582 | missense variant | T/C;G | snv | 8.4E-05 | 0.800 | 1.000 | 9 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 87968386 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 9 | 1997 | 2017 | |||
|
1 | 1.000 | 0.120 | 14 | 87941433 | missense variant | A/C | snv | 0.800 | 1.000 | 9 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.120 | 14 | 87965585 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 9 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 87986600 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.800 | 1.000 | 9 | 1995 | 2013 | |||
|
1 | 1.000 | 0.120 | 14 | 87968335 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 6 | 1997 | 2018 | |||
|
1 | 1.000 | 0.120 | 14 | 87939915 | missense variant | A/G | snv | 6.5E-04; 4.0E-06 | 1.7E-04 | 0.710 | 1.000 | 12 | 1997 | 2018 | |||
|
1 | 1.000 | 0.120 | 14 | 87968456 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 87988516 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.120 | 14 | 87947814 | missense variant | G/A;C | snv | 4.0E-06; 1.1E-03 | 0.700 | 1.000 | 9 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 87988483 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 9 | 1995 | 2013 | |||
|
1 | 1.000 | 0.120 | 14 | 87965534 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 1995 | 2013 | ||||
|
1 | 1.000 | 0.120 | 14 | 87945631 | missense variant | C/G;T | snv | 5.2E-05 | 4.2E-05 | 0.700 | 1.000 | 5 | 1999 | 2018 | |||
|
1 | 1.000 | 0.120 | 14 | 87986552 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 5 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.120 | 14 | 87968359 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1997 | 2016 |