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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 7 | 150951552 | missense variant | G/A | snv | 0.700 | 1.000 | 30 | 1997 | 2015 | |||||
|
7 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 0.700 | 1.000 | 14 | 2000 | 2011 | |||||
|
3 | 0.882 | 0.120 | 7 | 150951507 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 14 | 1998 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 150951583 | missense variant | C/T | snv | 0.710 | 1.000 | 14 | 1999 | 2014 | |||||
|
7 | 0.807 | 0.160 | 11 | 2583535 | missense variant | C/A;G;T | snv | 0.770 | 1.000 | 13 | 1996 | 2019 | |||||
|
2 | 0.925 | 0.120 | 7 | 150974920 | missense variant | T/G | snv | 0.700 | 1.000 | 13 | 1999 | 2017 | |||||
|
2 | 0.925 | 0.120 | 7 | 150951555 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1999 | 2015 | |||||
|
4 | 0.851 | 0.120 | 11 | 2778003 | missense variant | C/T | snv | 0.720 | 0.917 | 12 | 1998 | 2019 | |||||
|
6 | 0.807 | 0.120 | 11 | 2775984 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 1.000 | 12 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 2776006 | stop gained | C/A;T | snv | 0.710 | 1.000 | 12 | 2004 | 2016 | |||||
|
6 | 0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv | 0.710 | 1.000 | 12 | 2004 | 2016 | |||||
|
3 | 0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 11 | 1996 | 2012 | |||||
|
3 | 0.882 | 0.120 | 11 | 2585275 | missense variant | C/A;T | snv | 0.700 | 1.000 | 11 | 1997 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 2572846 | missense variant | GA/TT | mnv | 0.700 | 1.000 | 10 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.120 | 7 | 150974851 | missense variant | C/A;T | snv | 0.710 | 1.000 | 10 | 1999 | 2015 | |||||
|
4 | 0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv | 0.710 | 1.000 | 9 | 1995 | 2013 | |||||
|
3 | 0.925 | 0.120 | 11 | 2583486 | missense variant | G/A | snv | 0.710 | 1.000 | 9 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.120 | 11 | 2777000 | missense variant | T/C;G | snv | 0.700 | 1.000 | 9 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 150951793 | missense variant | G/A;T | snv | 0.710 | 1.000 | 9 | 1998 | 2019 | |||||
|
5 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1998 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 150974809 | missense variant | T/C | snv | 0.700 | 1.000 | 9 | 1999 | 2014 | |||||
|
3 | 0.882 | 0.120 | 7 | 150950312 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2018 | ||||
|
5 | 0.827 | 0.120 | 11 | 2527962 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2005 | 2015 | |||||
|
7 | 0.790 | 0.120 | 11 | 2572021 | missense variant | G/A;T | snv | 0.700 | 1.000 | 7 | 2004 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 2572862 | missense variant | T/C;G | snv | 0.710 | 0.857 | 7 | 1993 | 2012 |