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 | 9 | 21971007 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 9 | 21971064 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 6 | 36684145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.040 | 9 | 21971117 | missense variant | G/A;C | snv | 4.3E-06 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.040 | 6 | 36677906 | 5 prime UTR variant | T/C | snv | 6.2E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.040 | 9 | 21971176 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
1.000 | 0.040 | 17 | 82374361 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
1.000 | 0.040 | 6 | 45422762 | synonymous variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 3 | 139517664 | missense variant | C/G | snv | 4.4E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.040 | 6 | 45422720 | synonymous variant | G/A | snv | 3.2E-05; 1.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.080 | 9 | 21971160 | missense variant | C/G;T | snv | 4.7E-06; 4.7E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.701 | 0.280 | 8 | 89971232 | missense variant | G/A;C | snv | 2.5E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 13 | 110715751 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.040 | 7 | 140778454 | intron variant | G/T | snv | 9.8E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.200 | 1 | 22784501 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.040 | 11 | 112150119 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.080 | 3 | 12608919 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.851 | 0.080 | 22 | 40409261 | missense variant | T/A | snv | 4.1E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2002 | 2006 | |||||||||
|
0.689 | 0.400 | 13 | 49630893 | stop gained | G/A | snv | 9.7E-03 | 7.9E-03 |
|
0.020 | 1.000 | 2 | 2006 | 2006 | |||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 9 | 22008910 | missense variant | T/C | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2006 | 2006 |