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 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.700 | 1.000 | 10 | 1992 | 2018 | |||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.080 | 1.000 | 8 | 1996 | 2019 | |||||
|
3 | 0.925 | 0.080 | 14 | 73198066 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 1996 | 2004 | |||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 8 | 1997 | 2016 | |||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1997 | 2010 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.050 | 1.000 | 5 | 1997 | 2016 | |||||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 1997 | 2008 | ||||
|
5 | 0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.080 | 14 | 73198047 | missense variant | G/A;C;T | snv | 4.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
3 | 0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1998 | 2003 | |||||
|
3 | 0.882 | 0.080 | 14 | 73219192 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.080 | 1 | 226885623 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.080 | 14 | 73186884 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.882 | 0.080 | 14 | 73186878 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.080 | 14 | 73173669 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.080 | 14 | 73219191 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 14 | 73173654 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
6 | 0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 14 | 73217170 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.040 | 0.500 | 4 | 2000 | 2013 | |||
|
3 | 0.882 | 0.160 | 21 | 25975185 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.080 | 14 | 73186869 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
4 | 0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 |