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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 20 | 42472359 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37004421 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37004412 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 2 | 47480707 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47480846 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47480854 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47403240 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37048525 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47480839 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116771932 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116759444 | missense variant | C/T | snv | 1.2E-04 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 68822082 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 6 | 159692850 | synonymous variant | G/A | snv | 4.2E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 15 | 74750069 | frameshift variant | CT/- | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.020 | 1.000 | 2 | 2006 | 2007 | ||||
|
2 | 0.925 | 0.080 | 3 | 121729917 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.200 | 14 | 81203689 | intron variant | G/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | < 0.001 | 1 | 2008 | 2008 |