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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.160 | 15 | 48460299 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 3 | 52149850 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 10 | 68416703 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 2 | 46623765 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 2 | 46619676 | frameshift variant | -/GG | delins | 0.700 | 0 | ||||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 17 | 63917803 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.120 | 5 | 42695051 | missense variant | G/A | snv | 2.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.020 | 0.500 | 2 | 1998 | 1998 | ||||
|
5 | 0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.120 | 4 | 1805636 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.060 | 1.000 | 6 | 1999 | 2016 | |||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2002 | ||||
|
2 | 0.925 | 0.120 | 4 | 1804377 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 1999 | 2012 | |||||
|
5 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 0.925 | 0.120 | 5 | 151669740 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
8 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 1.000 | 2 | 2001 | 2014 | |||
|
12 | 0.742 | 0.360 | 17 | 7669671 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.120 | 5 | 42694934 | missense variant | C/T | snv | 8.1E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.120 | 5 | 42688959 | missense variant | C/T | snv | 2.1E-04 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.160 | 5 | 177994231 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |