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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||
|
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 | |||||
|
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 | |||||
|
2 | 0.925 | 0.080 | 14 | 73198105 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 1 | 226895548 | missense variant | A/C | snv | 3.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
5 | 0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
6 | 0.807 | 0.120 | 14 | 73198117 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
13 | 0.742 | 0.120 | 14 | 73192792 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 21 | 25997360 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.080 | 21 | 26021858 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
8 | 0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 |