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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.807 | 0.080 | 12 | 6034812 | missense variant | C/T | snv | 3.4E-03 | 3.7E-03 | 0.710 | 1.000 | 16 | 1991 | 2019 | |||
|
9 | 0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 | 0.740 | 1.000 | 5 | 2010 | 2019 | ||||
|
7 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.851 | 0.080 | 12 | 6021960 | missense variant | C/A;T | snv | 0.750 | 1.000 | 6 | 2006 | 2019 | |||||
|
5 | 0.851 | 0.120 | 12 | 6018667 | missense variant | T/C | snv | 2.7E-03 | 2.3E-03 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.080 | 12 | 6025624 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 12 | 6018535 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1991 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019621 | missense variant | G/A;T | snv | 8.0E-04; 2.8E-04 | 0.700 | 1.000 | 6 | 1993 | 2019 | ||||
|
3 | 0.882 | 0.080 | 12 | 6018629 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 1996 | 2019 | ||||
|
3 | 0.882 | 0.080 | 12 | 6022740 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2016 | 2018 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019496 | missense variant | G/A | snv | 0.710 | 1.000 | 2 | 1996 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019303 | missense variant | A/C | snv | 3.2E-05 | 3.5E-05 | 0.710 | 1.000 | 2 | 2007 | 2019 | |||
|
3 | 0.882 | 0.080 | 12 | 6019298 | missense variant | G/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2005 | 2019 | ||||
|
5 | 0.882 | 0.080 | 12 | 6019502 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019396 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.080 | 12 | 6018443 | stop gained | G/A;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 12 | 6013544 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 12 | 5949140 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.882 | 0.080 | 12 | 6075392 | missense variant | G/A | snv | 2.8E-05; 8.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.080 | 12 | 6057995 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
2 | 0.925 | 0.080 | 12 | 6019283 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.710 | 1.000 | 6 | 2001 | 2016 | |||
|
2 | 0.925 | 0.080 | 12 | 5981988 | missense variant | C/A | snv | 0.060 | 1.000 | 6 | 2000 | 2015 |