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 | 0.040 | 10 | 122582793 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 87864514 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 87894052 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47410322 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87925518 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 9 | 22006021 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 12 | 102402539 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
12 | 0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.040 | 0.500 | 4 | 2003 | 2014 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.100 | 1.000 | 11 | 2005 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
9 | 0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2015 | |||||
|
13 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 2 | 216180336 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 22 | 41629346 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 2 | 216128888 | intron variant | C/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.625 | 8 | 2008 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 0.571 | 7 | 2008 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 0.571 | 7 | 2008 | 2018 |