| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 21 | 25891795 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 |
|
0.020 | 1.000 | 2 | 1994 | 1995 | |||||||
|
1.000 | 0.040 | 4 | 9783034 | stop gained | C/A;T | snv | 1.9E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
1.000 | 0.040 | 6 | 16327755 | missense variant | T/A;G | snv | 3.2E-03; 4.1E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.040 | 8 | 56441336 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.882 | 0.120 | 13 | 46895833 | missense variant | G/C;T | snv | 2.0E-05; 1.8E-02 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 3 | 114171881 | missense variant | C/A;T | snv | 8.7E-04 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 7 | 155070942 | missense variant | C/A;T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.160 | 21 | 29598863 | synonymous variant | G/A | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.160 | 21 | 29553607 | stop gained | A/G;T | snv | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.160 | 21 | 29689750 | synonymous variant | T/A;G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.120 | 12 | 13865843 | synonymous variant | G/C;T | snv | 0.41; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 |
|
0.020 | 1.000 | 2 | 1997 | 2002 | |||||||
|
0.851 | 0.160 | 22 | 50064168 | missense variant | G/T | snv | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2002 | 2002 | ||||||||
|
0.882 | 0.120 | 17 | 2680294 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.200 | 6 | 46711566 | missense variant | A/G | snv | 6.8E-02 | 0.10 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||
|
0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.040 | 22 | 19523195 | 3 prime UTR variant | C/G | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 22 | 19515751 | intron variant | G/C | snv | 0.84 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 22 | 19963748 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 |