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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv | 0.800 | 1.000 | 13 | 2003 | 2017 | |||||
|
3 | 0.882 | 0.040 | 20 | 63444711 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.040 | 20 | 63442420 | missense variant | G/A | snv | 0.800 | 1.000 | 9 | 2003 | 2017 | |||||
|
2 | 0.925 | 0.040 | 20 | 63439624 | missense variant | C/T | snv | 0.800 | 1.000 | 9 | 2003 | 2017 | |||||
|
1 | 1.000 | 20 | 63442522 | missense variant | T/G | snv | 0.800 | 1.000 | 8 | 2003 | 2017 | ||||||
|
1 | 1.000 | 20 | 63439698 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2003 | 2017 | ||||||
|
3 | 0.882 | 0.080 | 20 | 63413551 | missense variant | C/A;T | snv | 0.800 | 1.000 | 8 | 2003 | 2017 | |||||
|
4 | 0.851 | 0.080 | 20 | 63442482 | stop gained | G/A;C;T | snv | 0.800 | 1.000 | 8 | 2003 | 2017 | |||||
|
1 | 1.000 | 20 | 63444748 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2013 | 2018 | ||||||
|
8 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 2003 | 2017 | |||||
|
1 | 1.000 | 20 | 63444736 | missense variant | T/C | snv | 0.700 | 1.000 | 4 | 2001 | 2015 | ||||||
|
2 | 0.925 | 0.040 | 20 | 63439704 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2012 | 2015 | |||||
|
5 | 0.882 | 0.040 | 20 | 63413535 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2015 | ||||
|
3 | 0.925 | 0.040 | 20 | 63442429 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 2012 | 2014 | |||||
|
1 | 1.000 | 20 | 63438675 | missense variant | T/C;G | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | ||||||
|
2 | 0.925 | 20 | 63444712 | missense variant | G/A;T | snv | 4.5E-06 | 0.700 | 1.000 | 3 | 2008 | 2015 | |||||
|
2 | 0.925 | 0.040 | 20 | 63438651 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2005 | 2013 | |||||
|
3 | 0.925 | 20 | 63442428 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||
|
1 | 1.000 | 20 | 63442523 | inframe insertion | -/GGT | ins | 0.700 | 1.000 | 3 | 1998 | 2008 | ||||||
|
1 | 1.000 | 20 | 63444826 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
2 | 0.925 | 0.040 | 20 | 63439657 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
4 | 0.882 | 20 | 63444729 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2015 | ||||||
|
1 | 1.000 | 20 | 63413558 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||
|
1 | 1.000 | 20 | 63414098 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2003 | 2015 | ||||||
|
1 | 1.000 | 20 | 63413577 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2014 |