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 | 17 | 15239575 | missense variant | G/A | snv | 0.720 | 1.000 | 18 | 1993 | 2004 | |||||
|
4 | 0.851 | 0.080 | 17 | 15260681 | missense variant | A/G | snv | 0.700 | 1.000 | 16 | 1993 | 2002 | |||||
|
2 | 0.925 | 0.080 | 17 | 15239584 | start lost | A/G;T | snv | 0.700 | 1.000 | 16 | 1993 | 2002 | |||||
|
3 | 0.882 | 0.080 | 17 | 15260692 | missense variant | G/T | snv | 0.700 | 1.000 | 16 | 1993 | 2002 | |||||
|
2 | 0.925 | 0.080 | 17 | 15230952 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 16 | 1993 | 2002 | ||||
|
4 | 0.882 | 0.160 | 17 | 15230951 | missense variant | C/A;T | snv | 0.800 | 1.000 | 16 | 1993 | 2002 | |||||
|
4 | 0.851 | 0.080 | 1 | 161307304 | missense variant | G/A;C | snv | 0.710 | 1.000 | 13 | 1993 | 2003 | |||||
|
10 | 0.752 | 0.200 | 1 | 161306414 | missense variant | C/G;T | snv | 0.810 | 1.000 | 13 | 1993 | 2003 | |||||
|
5 | 0.851 | 0.080 | 1 | 161306864 | missense variant | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 13 | 1993 | 2010 | ||||
|
4 | 0.851 | 0.080 | 1 | 161306911 | missense variant | T/C | snv | 0.710 | 1.000 | 12 | 1993 | 2003 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306815 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306810 | missense variant | T/G | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
2 | 0.925 | 0.080 | 1 | 161306774 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
5 | 0.827 | 0.120 | 1 | 161306767 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
3 | 0.882 | 0.120 | 1 | 161306753 | missense variant | T/G | snv | 0.700 | 1.000 | 12 | 1993 | 2003 | |||||
|
5 | 0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 | 0.710 | 1.000 | 5 | 2001 | 2016 | ||||
|
5 | 0.827 | 0.080 | 10 | 62813413 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 1999 | 2005 | |||||
|
6 | 0.807 | 0.080 | 10 | 62813563 | missense variant | G/A | snv | 0.830 | 1.000 | 3 | 1999 | 2005 | |||||
|
2 | 0.925 | 0.080 | 1 | 161307403 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2007 | 2015 | |||||
|
5 | 0.827 | 0.240 | 6 | 31507709 | intron variant | C/T | snv | 0.77 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 40397853 | missense variant | G/A | snv | 1.6E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | X | 71224114 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.742 | 0.160 | 1 | 161306785 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.827 | 0.160 | 1 | 161307268 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |