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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | |||
|
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 | |||
|
2 | 0.925 | 0.080 | 13 | 113118584 | missense variant | G/A | snv | 6.0E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
2 | 0.925 | 0.080 | 12 | 6034799 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 6021901 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 12 | 5949055 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 12 | 6036483 | missense variant | A/T | snv | 8.7E-03 | 3.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 12 | 6046726 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 12 | 6034813 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.080 | 12 | 6025624 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 12 | 6019501 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 12 | 6019396 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 0.925 | 0.080 | 12 | 6018910 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 12 | 6018532 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 6018506 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 12 | 6018476 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 12 | 6018443 | stop gained | G/A;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 12 | 6013630 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 12 | 5969337 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 12 | 5949140 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 12 | 5949139 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | ||||
|
1 | 1.000 | 0.080 | 12 | 5953560 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |